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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:
CA35732289
Gene: REN
HGNC
NCBI
Linked Data
dbSNP Id:
rs1053589414
MyVariant Identifiers:
chr1:g.204124209T>C (hg19)
chr1:g.204155081T>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.204155081T>C , CM000663.2:g.204155081T>C
GRCh38
NC_000001.10:g.204124209T>C , CM000663.1:g.204124209T>C
GRCh37
NC_000001.9:g.202390832T>C
NCBI36
NG_012122.1:g.16257A>G
Transcript Alleles
HGVS
Amino-acid change
ENST00000272190.9:c.1156A>G
MANE Select
ENSP00000272190.8:p.Ile386Val
ENST00000638118.1:c.1042A>G
ENSP00000490307.1:p.Ile348Val
ENST00000272190.8:c.1156A>G
ENSP00000272190.8:p.Ile386Val
NM_000537.3:c.1156A>G
NP_000528.1:p.Ile386Val
NM_000537.4:c.1156A>G
MANE Select
NP_000528.1:p.Ile386Val
Search 100 bp 5'
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