Allele Registry

Canonical Allele Identifier: PA916059005

Gene: PKHD1 HGNC NCBI

ClinVar RCV:

RCV000408967

RCV000598488

RCV003463802

ClinVar Variation:

371292

HGVS (amino-acid)	Matching Registered Transcripts
NP_733842.2:p.Pro755Leu	CA16041067 NM_170724.3:c.2264C>T