Canonical Allele Identifier: PA2573226187
Gene: NBN HGNC NCBI

Linked Data

ClinVar Variation Id: 1512498
ClinVar RCV Id: RCV002018172
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_002476.2:p.Leu251Ser
CA371658773
NM_002485.5:c.752T>C