Canonical Allele Identifier: PA645417319
Gene: NPHS2 HGNC NCBI

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Amino-acid Alleles

HGVS (amino-acid) Transcript change
NP_055440.1:p.Gln287Ter
NM_014625.4:c.[855_856del;859C>G;861A>T;8...

NM_014625.4:c.859C>T