Canonical Allele Identifier: PA1139681142
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 985942
ClinVar RCV Id: RCV001267117
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Leu2626Val
CA070948
NM_001042723.2:c.7876C>G