Canonical Allele Identifier: PA2825195579
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1210307
ClinVar RCV Id: RCV001580409
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Leu487Val
CA405688428
NM_000540.3:c.1459C>G