Canonical Allele Identifier: PA232112
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 133212
ClinVar RCV Id: RCV000119728 RCV000816104 RCV001802875 RCV002492411 RCV003997320
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Thr2596Ile
CA024853
NM_000540.3:c.7787C>T