Canonical Allele Identifier: PA232104
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_000531.2:p.Tyr2510His
CA024827
NM_000540.3:c.7528T>C