Allele Registry

Canonical Allele Identifier: PA195898

Gene: NBN HGNC NCBI

ClinVar RCV:

RCV000166446

RCV000586042

RCV000636773

ClinVar Variation:

186796

HGVS (amino-acid)	Matching Registered Transcripts
NP_002476.2:p.Glu606Lys	CA195896 NM_002485.5:c.1816G>A