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Canonical Allele Identifier: Get Identifier
Gene: PKHD1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_016866438.1:p.[Ala3070_Val3073delinsLeu;Thr3075_Val3081delinsGluSerSerLeu;Glu3083del;Val3085Arg;Asn3087_Ile3090del;Ala3092_Lys3099delinsTyr]
CA2578644499
XM_017010949.2:c.9208del