Allele Registry

Canonical Allele Identifier: PA916059422

Gene: PKHD1 HGNC NCBI

ClinVar Allele:

252424

ClinVar RCV:

RCV000253664

RCV000558453

RCV000987715

ClinVar Variation:

262404

HGVS (amino-acid)	Matching Registered Transcripts
NP_733842.2:p.Leu1709Phe	CA3852608 NM_170724.3:c.5125C>T