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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.[Glu3072_Gly3094delinsAspCysPheGlyLeuThrMetTrpArgIleGlnValPheMetAlaPheIleSerIleArgLysValAsp;Asp3096_Ile3101delinsThrThrValProGlu]
CA2695198859
XM_011514681.1:c.9216del