Canonical Allele Identifier: PA2825335363
Gene: NBN HGNC NCBI

Linked Data

ClinVar Variation Id: 1722227
ClinVar RCV Id: RCV002295244

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001019859.1:p.Leu440Phe
CA371655581
NM_001024688.3:c.1320A>T
CA371655582
NM_001024688.3:c.1320A>C