Canonical Allele Identifier: PA915962572
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 133192
ClinVar RCV Id: RCV000119693 RCV003997318
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Ala2421Pro
CA024730
NM_001042723.2:c.7261G>C