Allele Registry

Canonical Allele Identifier: PA645466017

Gene: NBN HGNC NCBI

ClinVar Allele:

233642

ClinVar RCV:

RCV000216784

RCV000460642

RCV003468996

ClinVar Variation:

230316

HGVS (amino-acid)	Matching Registered Transcripts
NP_002476.2:p.Ala541Gly	CA10578757 NM_002485.5:c.1622C>G