Canonical Allele Identifier: PA1139707629
Gene: NBN HGNC NCBI

Linked Data

ClinVar Variation Id: 861486
ClinVar RCV Id: RCV001068022
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_002476.2:p.Gly621Arg
CA371677290
NM_002485.5:c.1861G>A
CA371677291
NM_002485.5:c.1861G>C