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_011512983.1:p.Lys2088Asn	CA364439519 XM_011514681.1:c.6264A>C CA364439521 XM_011514681.1:c.6264A>T