Canonical Allele Identifier: PA658680732
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 448182
ClinVar RCV Id: RCV000518043 RCV001591169
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Ala152Asp
CA405676716
NM_000540.3:c.455C>A