Canonical Allele Identifier: PA1139674128
Gene: RYR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 940418
ClinVar RCV Id: RCV003638782
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001026.2:p.Pro2404del
CA1139656666
NM_001035.3:c.7210_7212del