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: PA232129

Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 65982

ClinVar RCV Id: RCV000056229 RCV000119763 RCV001383436 RCV003996487

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000531.2:p.Arg2939Lys	CA024952 NM_000540.3:c.8816G>A