Allele Registry

Canonical Allele Identifier: PA287912

Gene: NBN HGNC NCBI

ClinVar RCV:

RCV000115785

RCV000212750

RCV000656929

RCV000988083

RCV003891614

ClinVar Variation:

127862

HGVS (amino-acid)	Matching Registered Transcripts
NP_002476.2:p.Pro593Ala	CA287910 NM_002485.5:c.1777C>G