Allele Registry

Canonical Allele Identifier: PA287952

Gene: NBN HGNC NCBI

ClinVar Allele:

133337

ClinVar RCV:

RCV000115806

RCV000199794

RCV000212737

RCV000656926

RCV003492492

ClinVar Variation:

127880

HGVS (amino-acid)	Matching Registered Transcripts
NP_002476.2:p.Phe263Ser	CA287950 NM_002485.5:c.788T>C