Allele Registry

Canonical Allele Identifier: PA916059429

Gene: PKHD1 HGNC NCBI

ClinVar RCV:

RCV000004327

RCV000153715

RCV001849254

RCV002287323

ClinVar Variation:

4111

HGVS (amino-acid)	Matching Registered Transcripts
NP_733842.2:p.Val1741Met	CA234572 NM_170724.3:c.5221G>A