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_011512989.1:p.Asp1641Glu
CA364430599
XM_011514687.1:c.4923T>G
CA364430602
XM_011514687.1:c.4923T>A