Canonical Allele Identifier: PA2825423050
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 65989
ClinVar RCV Id: RCV000056236 RCV000119545 RCV001046476 RCV002496742 RCV003996489
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Arg4888Trp
CA024220
NM_001042723.2:c.14662C>T