Canonical Allele Identifier: PA2825201279
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 985942
ClinVar RCV Id: RCV001267117
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Leu2626Val
CA070948
NM_000540.3:c.7876C>G