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_016866438.1:p.[Lys2575_Asn2582del;Val2584_Val2586del;Thr2588_Phe2592del;Ile2595_Ser2603del;Asn2605del]
CA2695198857
XM_017010949.2:c.7724_7725del