Allele Registry

Canonical Allele Identifier: PA234585

Gene: PKHD1 HGNC NCBI

ClinVar RCV:

RCV000153724

RCV001079254

RCV002516090

RCV003150954

RCV003965145

ClinVar Variation:

167495

HGVS (amino-acid)	Matching Registered Transcripts
NP_619639.3:p.Thr642Ile	CA234584 NM_138694.3:c.1925C>T