Allele Registry

Canonical Allele Identifier: PA098134

Gene: PKHD1 HGNC NCBI

ClinVar RCV:

RCV000545902

RCV001731754

RCV001755812

RCV002483376

ClinVar Variation:

458610

HGVS (amino-acid)	Matching Registered Transcripts
NP_619639.3:p.Gly326Val	CA138918438 NM_138694.3:c.977G>T