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_011512985.1:p.[Arg3404_Thr3414delinsGlu;His3416_Pro3425delinsAlaIleAlaLeu;Met3427_His3433del]
CA658821698
XM_011514683.3:c.10210del