Canonical Allele Identifier: PA645466123
Gene: NBN HGNC NCBI

Linked Data

ClinVar Variation Id: 239191
ClinVar Variation Id: 627700
ClinVar RCV Id: RCV000771415

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_002476.2:p.Pro672Leu
CA4802630
NM_002485.5:c.2015C>T
CA913187595
NM_002485.5:c.2015_2016delinsTG