Allele Registry

Canonical Allele Identifier: PA916059116

Gene: PKHD1 HGNC NCBI

ClinVar RCV:

RCV000171399

ClinVar Variation:

191212

HGVS (amino-acid)	Matching Registered Transcripts
NP_733842.2:p.His993Arg	CA236264 NM_170724.3:c.2978A>G