Allele Registry

Canonical Allele Identifier: PA916059424

Gene: PKHD1 HGNC NCBI

ClinVar RCV:

RCV000373143

RCV000414198

RCV001580479

RCV003391047

RCV003503329

ClinVar Variation:

286651

2764261

HGVS (amino-acid)	Matching Registered Transcripts
NP_733842.2:p.Gly1712Arg	CA3852602 NM_170724.3:c.5134G>A CA364428466 NM_170724.3:c.5134G>C