Canonical Allele Identifier: PA915961745
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 448181
ClinVar RCV Id: RCV000516757 RCV001770395
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Leu625Pro
CA405694063
NM_001042723.2:c.1874T>C