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: PA916010189

Gene: ACTN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 384968

ClinVar RCV Id: RCV000422736 RCV001058529 RCV002379341 RCV002488926

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001265272.1:p.Ala432Val	CA1473113 NM_001278343.2:c.1295C>T