Canonical Allele Identifier: PA915961650
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 567662
ClinVar RCV Id: RCV000687815 RCV001580413 RCV002227488
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Leu487Pro
CA405688435
NM_001042723.2:c.1460T>C