Allele Registry

Canonical Allele Identifier: PA916059505

Gene: PKHD1 HGNC NCBI

ClinVar RCV:

RCV000500109

RCV001291854

RCV002506218

ClinVar Variation:

434018

HGVS (amino-acid)	Matching Registered Transcripts
NP_733842.2:p.Asp1942Gly	CA364421541 NM_170724.3:c.5825A>G