Canonical Allele Identifier: PA231919
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_000531.2:p.Ala4894Thr
CA024225
NM_000540.3:c.14680G>A