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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA122846
Gene: REN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
13123
ClinVar RCV Id:
RCV000014003
RCV001281274
RCV002496353
dbSNP Id:
rs121917741
ExAC:
1:204131245 G / A
gnomAD v2:
1-204131245-G-A
gnomAD v3:
1-204162117-G-A
gnomAD v4:
1-204162117-G-A
MyVariant Identifiers:
chr1:g.204131245G>A (hg19)
chr1:g.204162117G>A (hg38)
PubMed:
PMID:16116425
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.204162117G>A , CM000663.2:g.204162117G>A
GRCh38
NC_000001.10:g.204131245G>A , CM000663.1:g.204131245G>A
GRCh37
NC_000001.9:g.202397868G>A
NCBI36
NG_012122.1:g.9221C>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000272190.9:c.145C>T
MANE Select
ENSP00000272190.8:p.Arg49Ter
ENST00000638118.1:c.31C>T
ENSP00000490307.1:p.Arg11Ter
ENST00000272190.8:c.145C>T
ENSP00000272190.8:p.Arg49Ter
NM_000537.3:c.145C>T
NP_000528.1:p.Arg49Ter
NM_000537.4:c.145C>T
MANE Select
NP_000528.1:p.Arg49Ter
Search 100 bp 5'
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