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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.[Leu3117_Gly3137delinsPheGlyLeuThrMetTrpArgIleGlnValPheMetAlaPheIleSerIleArgLysValAsp;Asp3139_Ile3144delinsThrThrValProGlu;Gly3146Leu]
CA1139659317
ENST00000371117.8:c.9348del