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_016866437.1:p.[Leu2943_Val2948del;Ser2950_Val2962del;Arg2964_Ser2974del]
CA2580075436
XM_017010948.2:c.8829_8832delinsTTT