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: APTX HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182183.1:p.[Lys189_His197delinsAsnSer;Ile199_Pro200del;Met202_Asp213delinsAspTrpAlaThrThrPro;Asp215_Leu219delinsArgVal]
CA2580616170
NM_001195254.2:c.567del