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Canonical Allele Identifier: Get Identifier
Gene: PKHD1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_011512985.1:p.[Leu2902_Gly2923delinsArgPheGlyLeuThrMetTrpArgIleGlnValPheMetAlaPheIleSerIleArgLysValAsp;Asp2925_Ser2931delinsThrThrValProGluSerLeu]
CA2695206428
XM_011514683.3:c.8705del