Canonical Allele Identifier: PA1139680697
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 960842
ClinVar RCV Id: RCV001234442
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Gly2328Arg
CA405667368
NM_001042723.2:c.6982G>A
CA405667370
NM_001042723.2:c.6982G>C