Canonical Allele Identifier: PA913196393
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 627593
ClinVar RCV Id: RCV000770989 RCV003328625
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Leu2619Pro
CA082875
NM_000540.3:c.7856T>C