Canonical Allele Identifier: PA2499233211
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1067955
ClinVar RCV Id: RCV001379359
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Tyr4850His
CA405687664
NM_000540.3:c.14548T>C