Allele Registry

Canonical Allele Identifier: PA2825334542

Gene: NBN HGNC NCBI

ClinVar RCV:

RCV000227599

RCV004020791

ClinVar Variation:

239206

HGVS (amino-acid)	Matching Registered Transcripts
NP_001019859.1:p.Glu175Lys	CA10582602 NM_001024688.3:c.523G>A