This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier: Get Identifier
Gene: VPS53 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001353182.1:p.Thr699_Ter700insGluTyrGlnAlaPheAlaTrpGlnLeuLeuLeu
CA397710152
NM_001366253.2:c.2098T>G