Allele Registry

Canonical Allele Identifier: PA916059360

Gene: PKHD1 HGNC NCBI

ClinVar Allele:

493120

ClinVar RCV:

RCV000592486

RCV001400967

ClinVar Variation:

501696

HGVS (amino-acid)	Matching Registered Transcripts
NP_733842.2:p.Ala1484Thr	CA3852720 NM_170724.3:c.4450G>A