Canonical Allele Identifier: PA1139681501
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 933321
ClinVar RCV Id: RCV001201508 RCV002480655
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Leu3003Val
CA405683572
NM_001042723.2:c.9007C>G