Allele Registry

Canonical Allele Identifier: PA916059243

Gene: PKHD1 HGNC NCBI

ClinVar RCV:

RCV000667920

RCV003236830

RCV003459590

RCV003918107

ClinVar Variation:

552624

HGVS (amino-acid)	Matching Registered Transcripts
NP_733842.2:p.Cys1249Trp	CA3852850 NM_170724.3:c.3747T>G