Allele Registry

Canonical Allele Identifier: PA645507782

Gene: PKHD1 HGNC NCBI

ClinVar RCV:

RCV000254512

RCV000725680

RCV001086206

RCV003891982

ClinVar Variation:

262394

HGVS (amino-acid)	Matching Registered Transcripts
NP_619639.3:p.Ala748Val	CA3853298 NM_138694.3:c.2243C>T