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_011512992.1:p.Ile1192Leu
CA364420927
XM_011514690.3:c.3574A>T
CA364420929
XM_011514690.3:c.3574A>C