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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.[Leu3116_Gly3137delinsArgPheGlyLeuThrMetTrpArgIleGlnValPheMetAlaPheIleSerIleArgLysValAsp;Asp3139_Ser3145delinsThrThrValProGluSerLeu]
CA2695206428
ENST00000371117.8:c.9347del