Canonical Allele Identifier: PA915962325
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 590551
ClinVar RCV Id: RCV000721578 RCV001862099 RCV003999849
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Ala1696Thr
CA405653701
NM_001042723.2:c.5086G>A