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: PA915962602

Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 590585

ClinVar RCV Id: RCV000721649 RCV001592931

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001036188.1:p.Arg2458Leu	CA405670033 NM_001042723.2:c.7373G>T