Canonical Allele Identifier: PA2825422723
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1721013
ClinVar RCV Id: RCV002296835
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Thr4647Ile
CA405681344
NM_001042723.2:c.13940C>T