Allele Registry

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.

Canonical Allele Identifier: PA2499258576

Gene: ACTG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1065023

ClinVar RCV Id: RCV001375323 RCV002511083

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001605.1:p.Ser281Cys	CA401459355 NM_001614.5:c.842C>G