This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier: Get Identifier
Gene: PKHD1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_011512984.1:p.Asp3167Glu
CA364420639
XM_011514682.3:c.9501C>G
CA364420640
XM_011514682.3:c.9501C>A