Allele Registry

Canonical Allele Identifier: PA916060097

Gene: PKHD1 HGNC NCBI

ClinVar RCV:

RCV000195797

RCV000587211

RCV001263488

RCV001331691

RCV003993862

ClinVar Variation:

198306

HGVS (amino-acid)	Matching Registered Transcripts
NP_733842.2:p.Cys3346Arg	CA246877 NM_170724.3:c.10036T>C