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Canonical Allele Identifier: Get Identifier
Gene: NBN HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000513240.1:p.[Ile516Met;Lys518_Ala530delinsArgAsnValAsnSerArgLysThrHisTyrGlyGlnLeu;Glu532_Leu546delinsLysTyrLeuThrMetThrAsnPheArgMetIleValArgCys]
CA1139660639
ENST00000697304.1:c.1548del