Allele Registry

Canonical Allele Identifier: PA645465860

Gene: NBN HGNC NCBI

ClinVar RCV:

RCV000230649

RCV000446226

RCV001770195

RCV001818596

RCV003469157

ClinVar Variation:

239182

HGVS (amino-acid)	Matching Registered Transcripts
NP_002476.2:p.Ser341Arg	CA4802815 NM_002485.5:c.1023C>G CA371656765 NM_002485.5:c.1023C>A CA371656771 NM_002485.5:c.1021A>C