Canonical Allele Identifier: PA2499236747
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1005138
ClinVar RCV Id: RCV001301960 RCV004005004
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Asp491Ala
CA061565
NM_001042723.2:c.1472A>C