Allele Registry

Canonical Allele Identifier: PA2580509727

Gene: PKHD1 HGNC NCBI

ClinVar RCV:

RCV002726282

ClinVar Variation:

1962639

HGVS (amino-acid)	Matching Registered Transcripts
NP_733842.2:p.Arg781Gly	CA364443561 NM_170724.3:c.2341C>G