Canonical Allele Identifier: PA233322
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 159843
ClinVar RCV Id: RCV000147421 RCV003338423 RCV001237337
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Gly1165Asp
CA024401
NM_000540.3:c.3494G>A