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.Thr123Ser
CA364439315
XM_011514691.3:c.368C>G
CA364439323
XM_011514691.3:c.367A>T