Allele Registry

Canonical Allele Identifier: PA645507834

Gene: PKHD1 HGNC NCBI

ClinVar RCV:

RCV000292605

RCV001454131

ClinVar Variation:

283530

HGVS (amino-acid)	Matching Registered Transcripts
NP_619639.3:p.Asp1514His	CA3852704 NM_138694.3:c.4540G>C