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Canonical Allele Identifier: Get Identifier
Gene: NPHS2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000356588.4:p.[Ala250_His257delinsProPheSerPheAspThrSer;Leu259_Gln260delinsProPhe;Ser263_Pro267delinsCysProGlnArg;Thr269_Val271del;Pro275Trp;Asp277Tyr;Leu278_Leu279insCysHis;Leu279_Asn280insThrTyr]
CA658655629
ENST00000367616.4:c.747del