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Canonical Allele Identifier: Get Identifier
Gene: PKHD1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_011512984.1:p.[Ala3644_Val3647delinsLeu;Thr3649_Val3655delinsGluSerSerLeu;Glu3657del;Val3659Arg;Asn3661_Ile3664del;Ala3666_Lys3673delinsTyr]
CA2578644499
XM_011514682.3:c.10930del