Allele Registry

Canonical Allele Identifier: PA916059266

Gene: PKHD1 HGNC NCBI

ClinVar Allele:

490102

ClinVar RCV:

RCV000595392

RCV000802278

RCV002531030

ClinVar Variation:

498678

HGVS (amino-acid)	Matching Registered Transcripts
NP_733842.2:p.Arg1280Cys	CA3852826 NM_170724.3:c.3838C>T