This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier: Get Identifier
Gene: NBN HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Transcript change
ENSP00000513240.1:p.Ser414Ter
ENST00000697304.1:c.1241del

ENST00000697304.1:c.[1241del;1242dup]

ENST00000697304.1:c.[1241del;1243G>A]

ENST00000697304.1:c.[1241del;1243G=]

ENST00000697304.1:c.1241C>A

ENST00000697304.1:c.1241C>G