Allele Registry

Canonical Allele Identifier: PA149515

Gene: PKHD1 HGNC NCBI

ClinVar RCV:

RCV000082560

RCV000329286

RCV001291853

RCV001530433

RCV001705800

ClinVar Variation:

96410

HGVS (amino-acid)	Matching Registered Transcripts
NP_619639.3:p.Leu1870Val	CA149514 NM_138694.3:c.5608T>G