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: PA915962601

Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 12972

ClinVar RCV Id: RCV000013839 RCV000079164 RCV000793289 RCV001787735 RCV001787736 RCV001787737 RCV001787738 RCV001787733 RCV001787734 RCV001787739 RCV004017240

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001036188.1:p.Arg2458His	CA024787 NM_001042723.2:c.7373G>A