Allele Registry

Canonical Allele Identifier: PA916058438

Gene: PKHD1 HGNC NCBI

ClinVar RCV:

RCV000633432

RCV001569911

RCV003432661

ClinVar Variation:

528300

HGVS (amino-acid)	Matching Registered Transcripts
NP_733842.2:p.Leu8Pro	CA3854076 NM_170724.3:c.23T>C