Canonical Allele Identifier: PA167745
Gene: NBN HGNC NCBI

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Amino-acid Alleles

HGVS (amino-acid) Transcript change
NP_002476.2:p.Arg43Ter
NM_002485.5:c.[123del;125G>T;128G>T]

NM_002485.5:c.[123del;125G>T;128G>T;130A>...

NM_002485.5:c.127C>T