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.Thr1858Ser	CA364439372 XM_011514684.3:c.5573C>G CA364439377 XM_011514684.3:c.5572A>T