Canonical Allele Identifier: PA232100
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 65981
ClinVar RCV Id: RCV000056228 RCV000119718 RCV000552166 RCV000624571 RCV001198416 RCV001731347 RCV001814037 RCV002281900
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Arg2508Cys
CA024819
NM_000540.3:c.7522C>T