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_011512992.1:p.Thr74Ser	CA364439939 XM_011514690.3:c.221C>G CA364439943 XM_011514690.3:c.220A>T