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Canonical Allele Identifier: Get Identifier
Gene: NPHS2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000356587.4:p.[Ala317_His325delinsLeuProPheSerPheAspThrSer;Leu327_Gln328delinsProPhe;Ser331_Pro335delinsCysProGlnArg;Thr337_Val339del;Pro343Trp;Asp345Tyr;Leu346_Leu347insCysHisLeuThr]
CA199110
ENST00000367615.9:c.948del