Allele Registry

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

HGVS (amino-acid)	Matching Registered Transcripts
XP_016866433.1:p.Thr2054Ser	CA364439907 XM_017010944.2:c.6161C>G CA364439911 XM_017010944.2:c.6160A>T