Canonical Allele Identifier: PA915962322
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 590549
ClinVar RCV Id: RCV000721575 RCV001204342
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Ala1681Val
CA405653329
NM_001042723.2:c.5042C>T