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Canonical Allele Identifier: Get Identifier
Gene: PKHD1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000360158.3:p.[Glu3115_Gly3137delinsAspCysPheGlyLeuThrMetTrpArgIleGlnValPheMetAlaPheIleSerIleArgLysValAsp;Asp3139_Ile3144delinsThrThrValProGlu]
CA2695198859
ENST00000371117.8:c.9345del