Allele Registry

Canonical Allele Identifier: PA916058986

Gene: PKHD1 HGNC NCBI

ClinVar RCV:

RCV000176334

RCV002272158

RCV003317127

RCV003502520

ClinVar Variation:

195701

HGVS (amino-acid)	Matching Registered Transcripts
NP_733842.2:p.Arg723Cys	CA242235 NM_170724.3:c.2167C>T