Allele Registry

Canonical Allele Identifier: PA2830254675

Gene: PKHD1 HGNC NCBI

ClinVar RCV:

RCV001864514

RCV003475134

ClinVar Variation:

1371356

HGVS (amino-acid)	Matching Registered Transcripts
NP_619639.3:p.Ile222Leu	CA138924757 NM_138694.3:c.664A>C