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
ENSP00000360158.3:p.Leu3180Phe	CA364420841 ENST00000371117.8:c.9540G>T CA364420842 ENST00000371117.8:c.9540G>C