Canonical Allele Identifier: PA915962490
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 224389
ClinVar RCV Id: RCV000209992 RCV001377819 RCV001125452
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Arg2234Cys
CA068577
NM_001042723.2:c.6700C>T