Canonical Allele Identifier: PA1139680122
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 969394
ClinVar RCV Id: RCV001244731
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Glu1732Ala
CA405654124
NM_001042723.2:c.5195A>C