Canonical Allele Identifier: PA307011
Gene: RYR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 201411
ClinVar RCV Id: RCV000182901 RCV001177598 RCV000781826 RCV002467648 RCV002517809 RCV002372118 RCV003227704
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001026.2:p.Lys4223del
CA007668
NM_001035.3:c.12667_12669del