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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.[Ala3647_Val3650delinsLeu;Thr3652_Val3658delinsGluSerSerLeu;Glu3660del;Val3662Arg;Asn3664_Ile3667del;Ala3669_Lys3676delinsTyr]
CA2578644499
XM_011514681.1:c.10939del