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Canonical Allele Identifier: Get Identifier
Gene: PKHD1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_011512986.1:p.[Ala3453_Val3456delinsLeu;Thr3458_Val3464delinsGluSerSerLeu;Glu3466del;Val3468Arg;Asn3470_Ile3473del;Ala3475_Lys3482delinsTyr]
CA2578644499
XM_011514684.3:c.10357del