Allele Registry

Canonical Allele Identifier: PA916059412

Gene: PKHD1 HGNC NCBI

ClinVar RCV:

RCV000177676

RCV000394147

RCV001781535

ClinVar Variation:

196807

HGVS (amino-acid)	Matching Registered Transcripts
NP_733842.2:p.Ile1687Thr	CA244193 NM_170724.3:c.5060T>C