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_016866438.1:p.Leu230Phe
CA364443106
XM_017010949.2:c.690G>T
CA364443107
XM_017010949.2:c.690G>C