Allele Registry

Canonical Allele Identifier: PA098510

Gene: PKHD1 HGNC NCBI

ClinVar Allele:

488322

ClinVar RCV:

RCV000592600

RCV000723529

RCV003471950

ClinVar Variation:

496898

HGVS (amino-acid)	Matching Registered Transcripts
NP_619639.3:p.Ser1833Leu	CA3852501 NM_138694.3:c.5498C>T