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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.[Met2538_Leu2539delinsIle;Val2541_Glu2542insThrCysArg;Asn2543_Ile2547delinsGlnArgGlyAspArg;Asn2549_Val2562delinsHisTyrSerGlyArgGlnTyrTyrTrpSerPheGlySerSer;Tyr2564_Val2565delinsCysIle;Ser2567Cys]
CA16041033
XM_017010949.2:c.7610_7613dup