Allele Registry

Canonical Allele Identifier: PA2825335558

Gene: NBN HGNC NCBI

ClinVar RCV:

RCV000115785

RCV000212750

RCV000656929

RCV000988083

RCV003891614

ClinVar Variation:

127862

HGVS (amino-acid)	Matching Registered Transcripts
NP_001019859.1:p.Pro511Ala	CA287910 NM_001024688.3:c.1531C>G