Canonical Allele Identifier: PA1139707781
Gene: NBN HGNC NCBI

Linked Data

ClinVar Variation Id: 939438
ClinVar RCV Id: RCV001208843

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_002476.2:p.Thr668Ser
CA371676462
NM_002485.5:c.2003C>G
CA371676463
NM_002485.5:c.2002A>T