Canonical Allele Identifier: PA915962658
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 654130
ClinVar RCV Id: RCV000810024 RCV001706709 RCV001803989 RCV002495116 RCV003132072
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Arg2593His
CA070222
NM_001042723.2:c.7778G>A