Canonical Allele Identifier: PA2580147003
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2176132
ClinVar RCV Id: RCV002602537
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Ala2598Val
CA070276
NM_001042723.2:c.7793C>T