Canonical Allele Identifier: PA2573180158
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1501089
ClinVar RCV Id: RCV002017203 RCV002507779 RCV004011112
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Glu2347Lys
CA069061
NM_001042723.2:c.7039G>A