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_011512990.1:p.Val3173Leu
CA364420887
XM_011514688.2:c.9517G>T
CA364420888
XM_011514688.2:c.9517G>C