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: PKHD1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_011512983.1:p.[Met3115_Leu3116delinsIle;Val3118_Glu3119insThrCysArg;Asn3120_Ile3124delinsGlnArgGlyAspArg;Asn3126_Val3139delinsHisTyrSerGlyArgGlnTyrTyrTrpSerPheGlySerSer;Tyr3141_Val3142delinsCysIle;Ser3144Cys]
CA16041033
XM_011514681.1:c.9341_9344dup