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.[Leu2880_Gly2900delinsPheGlyLeuThrMetTrpArgIleGlnValPheMetAlaPheIleSerIleArgLysValAsp;Asp2902_Ile2907delinsThrThrValProGlu;Gly2909Leu]
CA1139659317
XM_017010948.2:c.8637del