Canonical Allele Identifier: PA2499233164
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1007754
ClinVar RCV Id: RCV001304981 RCV002493598
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Glu4252Gln
CA405671079
NM_000540.3:c.12754G>C