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_011512993.1:p.Val1523Leu
CA3851065
XM_011514691.3:c.4567G>C
CA138897443
XM_011514691.3:c.4567G>T