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_011512986.1:p.Thr2124Ser	CA364424239 XM_011514684.3:c.6371C>G CA364424244 XM_011514684.3:c.6370A>T