Allele Registry

Canonical Allele Identifier: PA2825334771

Gene: NBN HGNC NCBI

ClinVar RCV:

RCV000688246

RCV001176635

RCV001280672

RCV002485614

RCV003128640

ClinVar Variation:

568013

HGVS (amino-acid)	Matching Registered Transcripts
NP_001019859.1:p.Gln244Glu	CA371656881 NM_001024688.3:c.730C>G