Canonical Allele Identifier: PA231759
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 132988
ClinVar RCV Id: RCV000119399 RCV001450000 RCV002492407
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Arg3348His
CA023809
NM_000540.3:c.10043G>A