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: NPHP3 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000508409.1:p.[Lys124_Leu126delinsAsnAlaGly;Ala128_Pro134delinsThrAlaGlyAsnAlaGlyLeu;Trp136_Ala137delinsArgAsp;Thr139_Glu145delinsGlyArgProLeuGlySerThr;Arg147_Ser151delinsValLeuLeuPro;Ser153_Pro155delinsGlnThr]
CA1139658271
ENST00000683570.1:c.372_376del