Canonical Allele Identifier: PA212105
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 224368
ClinVar RCV Id: RCV000209999 RCV001853348 RCV003129810
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Ile585Val
CA212103
NM_000540.3:c.1753A>G