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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:
CA344337589
Gene: REN
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr1:g.204128536T>A (hg19)
chr1:g.204159408T>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.204159408T>A , CM000663.2:g.204159408T>A
GRCh38
NC_000001.10:g.204128536T>A , CM000663.1:g.204128536T>A
GRCh37
NC_000001.9:g.202395159T>A
NCBI36
NG_012122.1:g.11930A>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000272190.9:c.680A>T
MANE Select
ENSP00000272190.8:p.Tyr227Phe
ENST00000638118.1:c.566A>T
ENSP00000490307.1:p.Tyr189Phe
ENST00000272190.8:c.680A>T
ENSP00000272190.8:p.Tyr227Phe
NM_000537.3:c.680A>T
NP_000528.1:p.Tyr227Phe
NM_000537.4:c.680A>T
MANE Select
NP_000528.1:p.Tyr227Phe
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