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_011512981.1:p.Lys2450Asn
CA364421778
XM_011514679.1:c.7350G>T
CA364421781
XM_011514679.1:c.7350G>C