Allele Registry

Canonical Allele Identifier: PA2573305237

Gene: PKHD1 HGNC NCBI

ClinVar RCV:

RCV001864514

RCV003475134

ClinVar Variation:

1371356

HGVS (amino-acid)	Matching Registered Transcripts
NP_733842.2:p.Ile222Leu	CA138924757 NM_170724.3:c.664A>C