Canonical Allele Identifier: PA891856217
Gene: NBN HGNC NCBI

Linked Data

ClinVar Variation Id: 576338
ClinVar RCV Id: RCV000698816

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_002476.2:p.Trp289Arg
CA371658327
NM_002485.5:c.865T>A
CA371658328
NM_002485.5:c.865T>C