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_011512985.1:p.[Lys2981_Val2985delinsCysArgLeuCys;Arg2987_Val2990delinsGly;Val2992_Thr2994delinsGln;Ser2996_Asn3011delinsLeuTrpProProAlaLeuLeuLeuThrAlaPheArgThrLys]
CA913110676
XM_011514683.3:c.8941_8944del