Allele Registry

Canonical Allele Identifier: PA916059179

Gene: PKHD1 HGNC NCBI

ClinVar RCV:

RCV000311356

RCV002059116

ClinVar Variation:

282761

HGVS (amino-acid)	Matching Registered Transcripts
NP_733842.2:p.Thr1125Pro	CA3852958 NM_170724.3:c.3373A>C