Allele Registry

Canonical Allele Identifier: PA193556

Gene: NBN HGNC NCBI

ClinVar RCV:

RCV000165497

RCV000168457

RCV001706081

RCV002225484

ClinVar Variation:

185980

HGVS (amino-acid)	Matching Registered Transcripts
NP_002476.2:p.Thr139Ala	CA193554 NM_002485.5:c.415A>G