Canonical Allele Identifier: PA915961505
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 133160
ClinVar RCV Id: RCV000119657 RCV001802866 RCV002514603
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Val218Ile
CA024605
NM_001042723.2:c.652G>A