Canonical Allele Identifier: PA915962623
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 658565
ClinVar RCV Id: RCV000815416 RCV004001778
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Ala2539Val
CA069875
NM_001042723.2:c.7616C>T