Canonical Allele Identifier: PA915962319
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 590548
ClinVar RCV Id: RCV000721574
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Cys1673Arg
CA405653093
NM_001042723.2:c.5017T>C