Allele Registry

Canonical Allele Identifier: PA2825335750

Gene: NBN HGNC NCBI

ClinVar Allele:

474822

ClinVar RCV:

RCV000570062

RCV000684896

ClinVar Variation:

483965

HGVS (amino-acid)	Matching Registered Transcripts
NP_001019859.1:p.Lys583Glu	CA371676482 NM_001024688.3:c.1747A>G