Canonical Allele Identifier: PA2580147015
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2115436
ClinVar RCV Id: RCV003046457
ClinVar Variation Id: 2195006
ClinVar RCV Id: RCV002647564 RCV004009494
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Asp2629Glu
CA070983
NM_001042723.2:c.7887C>G
CA405673961
NM_001042723.2:c.7887C>A