Canonical Allele Identifier: PA915962546
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 133187
ClinVar RCV Id: RCV000119688 RCV000148823 RCV001059591 RCV002483209
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Ala2367Thr
CA024711
NM_001042723.2:c.7099G>A