Allele Registry

Canonical Allele Identifier: PA645465965

Gene: NBN HGNC NCBI

ClinVar RCV:

RCV000218203

RCV000473153

RCV001284189

RCV001800560

ClinVar Variation:

232337

HGVS (amino-acid)	Matching Registered Transcripts
NP_002476.2:p.Thr485Met	CA4802717 NM_002485.5:c.1454C>T