Canonical Allele Identifier: PA2499236789
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1009683
ClinVar RCV Id: RCV001307202 RCV001587332 RCV004005044
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Cys1781Arg
CA066926
NM_001042723.2:c.5341T>C