Canonical Allele Identifier: PA915962328
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 161373
ClinVar RCV Id: RCV000148820 RCV000812144 RCV000721580 RCV003998173
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Arg1707His
CA024486
NM_001042723.2:c.5120G>A