Allele Registry

Canonical Allele Identifier: PA645507965

Gene: PKHD1 HGNC NCBI

ClinVar Allele:

395542

ClinVar RCV:

RCV000463053

RCV001357091

RCV003932735

ClinVar Variation:

414168

HGVS (amino-acid)	Matching Registered Transcripts
NP_619639.3:p.Ala3742Thr	CA3850924 NM_138694.3:c.11224G>A