Canonical Allele Identifier: PA2580276919
Gene: NBN HGNC NCBI

Linked Data

ClinVar Variation Id: 1722227
ClinVar RCV Id: RCV002295244

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_002476.2:p.Leu522Phe
CA371655581
NM_002485.5:c.1566A>T
CA371655582
NM_002485.5:c.1566A>C