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_011512990.1:p.Val2046Leu	CA364439959 XM_011514688.2:c.6136G>T CA364439960 XM_011514688.2:c.6136G>C