Allele Registry

Canonical Allele Identifier: PA2825334568

Gene: NBN HGNC NCBI

ClinVar Allele:

133337

ClinVar RCV:

RCV000115806

RCV000199794

RCV000212737

RCV000656926

RCV003492492

ClinVar Variation:

127880

HGVS (amino-acid)	Matching Registered Transcripts
NP_001019859.1:p.Phe181Ser	CA287950 NM_001024688.3:c.542T>C