Canonical Allele Identifier: PA2825422729
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1120228
ClinVar RCV Id: RCV001449996 RCV002259395 RCV002501577 RCV002560330
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Cys4659Arg
CA060685
NM_001042723.2:c.13975T>C