Canonical Allele Identifier: PA2825334426
Gene: NBN HGNC NCBI

Linked Data

ClinVar Variation Id: 1419172
ClinVar RCV Id: RCV001954617

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001019859.1:p.Leu130Arg
CA371659175
NM_001024688.3:c.389T>G