Allele Registry

Canonical Allele Identifier: PA658672117

Gene: NBN HGNC NCBI

ClinVar Allele:

474822

ClinVar RCV:

RCV000570062

RCV000684896

ClinVar Variation:

483965

HGVS (amino-acid)	Matching Registered Transcripts
NP_002476.2:p.Lys665Glu	CA371676482 NM_002485.5:c.1993A>G