Allele Registry

Canonical Allele Identifier: PA098641

Gene: PKHD1 HGNC NCBI

ClinVar RCV:

RCV000411938

RCV002488836

ClinVar Variation:

370239

HGVS (amino-acid)	Matching Registered Transcripts
NP_619639.3:p.Tyr1838Cys	CA3852499 NM_138694.3:c.5513A>G