Canonical Allele Identifier: PA915961705
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 590486
ClinVar RCV Id: RCV000721424 RCV001052918 RCV002227492 RCV002485819 RCV003999829
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Glu572Ala
CA062364
NM_001042723.2:c.1715A>C