Canonical Allele Identifier: PA915962619
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 133208
ClinVar RCV Id: RCV000119721 RCV001802873
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Tyr2510His
CA024827
NM_001042723.2:c.7528T>C