Canonical Allele Identifier: PA2825423055
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 133087
ClinVar RCV Id: RCV000119548 RCV001588940
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Ala4889Thr
CA024225
NM_001042723.2:c.14665G>A