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Canonical Allele Identifier: Get Identifier
Gene: PKHD1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_016866436.1:p.[Ala3602_Val3605delinsLeu;Thr3607_Val3613delinsGluSerSerLeu;Glu3615del;Val3617Arg;Asn3619_Ile3622del;Ala3624_Lys3631delinsTyr]
CA2578644499
XM_017010947.2:c.10804del