Allele Registry

Canonical Allele Identifier: PA097814

Gene: PKHD1 HGNC NCBI

ClinVar RCV:

RCV000168407

RCV000479548

RCV000626996

RCV001292108

RCV001331702

RCV001507098

RCV001844812

RCV003398859

ClinVar Variation:

188369

HGVS (amino-acid)	Matching Registered Transcripts
NP_619639.3:p.Arg1624Trp	CA334736 NM_138694.3:c.4870C>T