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Canonical Allele Identifier: Get Identifier
Gene: PKHD1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_016866436.1:p.[Leu3029_Gly3049delinsPheGlyLeuThrMetTrpArgIleGlnValPheMetAlaPheIleSerIleArgLysValAsp;Asp3051_Ile3056delinsThrThrValProGlu;Gly3058Leu]
CA1139659317
XM_017010947.2:c.9084del