Canonical Allele Identifier: PA2499236876
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1001968
ClinVar RCV Id: RCV001298329 RCV002493572 RCV003322877 RCV004004977
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Pro1758Leu
CA066833
NM_001042723.2:c.5273C>T