Allele Registry

Canonical Allele Identifier: PA167866

Gene: NBN HGNC NCBI

ClinVar Allele:

151956

ClinVar RCV:

RCV000131247

RCV000542468

RCV001357760

RCV001778752

ClinVar Variation:

142242

HGVS (amino-acid)	Matching Registered Transcripts
NP_002476.2:p.Ile531Val	CA167864 NM_002485.5:c.1591A>G