Canonical Allele Identifier: PA2825335650
Gene: NBN HGNC NCBI

Linked Data

ClinVar Variation Id: 1468831
ClinVar RCV Id: RCV001969187

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001019859.1:p.Lys545Asn
CA371677248
NM_001024688.3:c.1635G>T
CA371677249
NM_001024688.3:c.1635G>C