Allele Registry

Canonical Allele Identifier: PA2825334239

Gene: NBN HGNC NCBI

ClinVar Allele:

221796

ClinVar RCV:

RCV000204158

RCV000215544

RCV002466468

ClinVar Variation:

221045

HGVS (amino-acid)	Matching Registered Transcripts
NP_001019859.1:p.Arg7Gln	CA348406 NM_001024688.3:c.20G>A