Canonical Allele Identifier: PA1139707995
Gene: NBN HGNC NCBI

Linked Data

ClinVar Variation Id: 860587
ClinVar RCV Id: RCV001066917
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_002476.2:p.Glu720Asp
CA371675365
NM_002485.5:c.2160A>T
CA371675367
NM_002485.5:c.2160A>C