Allele Registry

Canonical Allele Identifier: PA916058711

Gene: PKHD1 HGNC NCBI

ClinVar RCV:

RCV000328110

RCV001034258

ClinVar Variation:

290975

HGVS (amino-acid)	Matching Registered Transcripts
NP_733842.2:p.Arg312Gln	CA3853697 NM_170724.3:c.935G>A