Allele Registry

Canonical Allele Identifier: PA2825334967

Gene: NBN HGNC NCBI

ClinVar Allele:

396715

ClinVar RCV:

RCV000468237

RCV000570523

RCV001194317

RCV001800687

ClinVar Variation:

411739

HGVS (amino-acid)	Matching Registered Transcripts
NP_001019859.1:p.Phe311Leu	CA16612543 NM_001024688.3:c.931T>C CA371656416 NM_001024688.3:c.933C>A CA371656417 NM_001024688.3:c.933C>G