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Canonical Allele Identifier: Get Identifier
Gene: PKHD1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_016866434.1:p.[Leu3091_Gly3112delinsArgPheGlyLeuThrMetTrpArgIleGlnValPheMetAlaPheIleSerIleArgLysValAsp;Asp3114_Ser3120delinsThrThrValProGluSerLeu]
CA2695206428
XM_017010945.2:c.9272del