Allele Registry

Canonical Allele Identifier: PA645465785

Gene: NBN HGNC NCBI

ClinVar RCV:

RCV000227599

RCV004020791

ClinVar Variation:

239206

HGVS (amino-acid)	Matching Registered Transcripts
NP_002476.2:p.Glu257Lys	CA10582602 NM_002485.5:c.769G>A