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_016866434.1:p.[Asn3596_Cys3597delinsGlnLeu;Thr3599_Thr3601delinsTyr;Thr3603_Pro3614delinsAsp;Met3616_Ser3621del;Arg3623_Ala3624del]
CA645554297
XM_017010945.2:c.10784_10785insA