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Canonical Allele Identifier: Get Identifier
Gene: PKHD1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_016866437.1:p.[Leu2879_Gly2900delinsArgPheGlyLeuThrMetTrpArgIleGlnValPheMetAlaPheIleSerIleArgLysValAsp;Asp2902_Ser2908delinsThrThrValProGluSerLeu]
CA2695206428
XM_017010948.2:c.8636del