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Canonical Allele Identifier: Get Identifier
Gene: NPHS1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000343634.5:p.[Trp278_Gln283delinsCysAlaValAlaGluGluTrp;Val285_Trp289delinsAlaGlyValHisSerVal;Thr291_Glu292delinsHisArgAla;Thr294_Arg307delinsProGlyGlyGlyProGlnCysAlaGlyAspAspArgGluAla]
CA2697556481
ENST00000353632.6:c.827_833dup