Allele Registry

Canonical Allele Identifier: PA658675797

Gene: PKHD1 HGNC NCBI

ClinVar RCV:

RCV000529518

RCV000733218

RCV003476228

ClinVar Variation:

458597

HGVS (amino-acid)	Matching Registered Transcripts
NP_619639.3:p.Ser1400Leu	CA3852760 NM_138694.3:c.4199C>T