Allele Registry

Canonical Allele Identifier: PA098497

Gene: PKHD1 HGNC NCBI

ClinVar RCV:

RCV000004325

ClinVar Variation:

4109

HGVS (amino-acid)	Matching Registered Transcripts
NP_619639.3:p.Ser1664Phe	CA253009 NM_138694.3:c.4991C>T