Allele Registry

Canonical Allele Identifier: PA645507833

Gene: PKHD1 HGNC NCBI

ClinVar Variation Id: 289885

HGVS (amino-acid)	Matching Registered Transcripts
NP_619639.3:p.Glu1483Lys	CA3852721 NM_138694.3:c.4447G>A