Canonical Allele Identifier: PA2573226232
Gene: NBN HGNC NCBI

Linked Data

ClinVar Variation Id: 1417296
ClinVar RCV Id: RCV001938265
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_002476.2:p.Asp284Glu
CA371658398
NM_002485.5:c.852C>G
CA371658402
NM_002485.5:c.852C>A