Allele Registry

Canonical Allele Identifier: PA356438

Gene: NBN HGNC NCBI

ClinVar Allele:

221794

ClinVar RCV:

RCV000206877

RCV000220601

RCV000486552

RCV000764790

RCV000767209

RCV003474978

ClinVar Variation:

219644

HGVS (amino-acid)	Matching Registered Transcripts
NP_002476.2:p.Val114Phe	CA350859 NM_002485.5:c.340G>T