Canonical Allele Identifier: PA658804803
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 544394
ClinVar RCV Id: RCV000655519 RCV000764193 RCV004004137
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Arg3287His
CA074241
NM_000540.3:c.9860G>A