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: PA2741816947

Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2637164

ClinVar RCV Id: RCV004536728 RCV004011307

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000531.2:p.Ala4679Thr	CA405682051 NM_000540.3:c.14035G>A