Allele Registry

Canonical Allele Identifier: PA658671734

Gene: NBN HGNC NCBI

ClinVar RCV:

RCV000573508

RCV001341050

ClinVar Variation:

483991

HGVS (amino-acid)	Matching Registered Transcripts
NP_002476.2:p.Glu383Gln	CA371656492 NM_002485.5:c.1147G>C