Canonical Allele Identifier: PA231781
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 133013
ClinVar RCV Id: RCV000119433 RCV000148790 RCV000545953
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Val3840Ile
CA023914
NM_000540.3:c.11518G>A