Allele Registry

Canonical Allele Identifier: PA916059099

Gene: PKHD1 HGNC NCBI

ClinVar RCV:

RCV000176777

RCV000664542

RCV000724042

RCV001198369

RCV001844815

ClinVar Variation:

196052

549956

HGVS (amino-acid)	Matching Registered Transcripts
NP_733842.2:p.Gly952Arg	CA275144 NM_170724.3:c.2854G>A CA364442421 NM_170724.3:c.2854G>C