Allele Registry

Canonical Allele Identifier: PA244857

Gene: PKHD1 HGNC NCBI

ClinVar RCV:

RCV000274741

RCV000724484

RCV001844070

RCV003947510

ClinVar Variation:

196989

HGVS (amino-acid)	Matching Registered Transcripts
NP_619639.3:p.Gln1923Leu	CA244856 NM_138694.3:c.5768A>T