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: PA105943

Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 12970

ClinVar RCV Id: RCV000013837 RCV000119698 RCV000551243 RCV000612258 RCV001787719 RCV001787720 RCV001787721 RCV001787722 RCV001787724 RCV001787723 RCV001787725 RCV002288488 RCV002513026

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000531.2:p.Gly2434Arg	CA024747 NM_000540.3:c.7300G>A CA405669571 NM_000540.3:c.7300G>C