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Canonical Allele Identifier: Get Identifier
Gene: NBEAL2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000415034.2:p.[Ser1384del;Gly1387_Pro1389delinsAlaArgHis;Pro1391_Asp1393delinsPheAlaThr;Pro1395_Ser1407delinsTrpAlaAlaAlaLeuSerCysCysSerTrpProProGlnLeuGln;Ser1410_Val1412delinsGlnCysAla]
CA2665493247
ENST00000450053.8:c.4148_4149insA