Allele Registry

Canonical Allele Identifier: PA160971

Gene: NBN HGNC NCBI

ClinVar RCV:

RCV000115784

RCV000121614

RCV000123208

RCV000587365

RCV001354070

ClinVar Variation:

127861

HGVS (amino-acid)	Matching Registered Transcripts
NP_002476.2:p.Leu574Ile	CA160969 NM_002485.5:c.1720T>A