Canonical Allele Identifier: PA2580129567
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2027506
ClinVar RCV Id: RCV002858664
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Lys4210del
CA2500957471
NM_000540.3:c.12628_12630del