Canonical Allele Identifier: PA915962493
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 590574
ClinVar RCV Id: RCV000721623 RCV000791117 RCV001592930 RCV002485826 RCV003514404
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Arg2248His
CA068627
NM_001042723.2:c.6743G>A