Canonical Allele Identifier: PA2825422313
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_001036188.1:p.Ala4349Thr
CA405673279
NM_001042723.2:c.13045G>A