Canonical Allele Identifier: PA645456338
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 424556
ClinVar RCV Id: RCV000482428 RCV000535216 RCV000764192
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Arg3093Cys
CA16620838
NM_000540.3:c.9277C>T