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Canonical Allele Identifier: Get Identifier
Gene: PKHD1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_011512983.1:p.[Leu3074_Gly3094delinsPheGlyLeuThrMetTrpArgIleGlnValPheMetAlaPheIleSerIleArgLysValAsp;Asp3096_Ile3101delinsThrThrValProGlu;Gly3103Leu]
CA1139659317
XM_011514681.1:c.9219del