Canonical Allele Identifier: PA1139673033
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 971939
ClinVar RCV Id: RCV001247845 RCV002480851
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Ala4354Thr
CA405673279
NM_000540.3:c.13060G>A