Canonical Allele Identifier: PA658668288
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 450330
ClinVar RCV Id: RCV000519263 RCV000795671 RCV001262656 RCV002289709 RCV002525168
ClinVar Variation Id: 2169673
ClinVar RCV Id: RCV003084949
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Ser3235Arg
CA074063
NM_000540.3:c.9703A>C
CA405691380
NM_000540.3:c.9705T>A
CA405691382
NM_000540.3:c.9705T>G