Canonical Allele Identifier: PA232120
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 133220
ClinVar RCV Id: RCV000119742 RCV001802879
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Gly2733Asp
CA024901
NM_000540.3:c.8198G>A