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: HPS4 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001336832.1:p.[Gln442_Ala453delinsSerSerLysThrIleLeuAlaIleAlaAlaLysPro;Ile455Phe;Arg457_Leu461delinsGluGlnThrLeuSer;Arg463_Arg467delinsGluGlyProAlaGly;Leu469_Leu471delinsCysTyrCys]
CA2818606393
NM_001349903.2:c.1324del