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_011512986.1:p.[Leu2942_Tyr2947delinsSerPheGlySerSer;Phe2949_Asn2954delinsCysIlePheCys;Val2956Thr;Lys2958_Val2959delinsPheArg;Ile2961_Asn2965delinsLys;Val2967_Val2969delinsAlaAspCys]
CA913110677
XM_011514684.3:c.8822dup