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_016866438.1:p.Asn254Lys	CA364442936 XM_017010949.2:c.762T>G CA364442937 XM_017010949.2:c.762T>A