Canonical Allele Identifier: PA2825200506
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1051940
ClinVar RCV Id: RCV001360045
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Ala2338Val
CA405667478
NM_000540.3:c.7013C>T