Allele Registry

Canonical Allele Identifier: PA916058525

Gene: PKHD1 HGNC NCBI

ClinVar RCV:

RCV000179009

RCV000288301

RCV001292146

RCV003955075

ClinVar Variation:

197870

HGVS (amino-acid)	Matching Registered Transcripts
NP_733842.2:p.Ala109Thr	CA203131 NM_170724.3:c.325G>A