Allele Registry

Canonical Allele Identifier: PA244194

Gene: PKHD1 HGNC NCBI

ClinVar RCV:

RCV000177676

RCV000394147

RCV001781535

ClinVar Variation:

196807

HGVS (amino-acid)	Matching Registered Transcripts
NP_619639.3:p.Ile1687Thr	CA244193 NM_138694.3:c.5060T>C