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Canonical Allele Identifier: Get Identifier
Gene: PKHD1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_011512986.1:p.[Leu2880_Gly2900delinsPheGlyLeuThrMetTrpArgIleGlnValPheMetAlaPheIleSerIleArgLysValAsp;Asp2902_Ile2907delinsThrThrValProGlu;Gly2909Leu]
CA1139659317
XM_011514684.3:c.8637del