Canonical Allele Identifier: PA2825334641
Gene: NBN HGNC NCBI

Linked Data

ClinVar Variation Id: 1417296
ClinVar RCV Id: RCV001938265

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001019859.1:p.Asp202Glu
CA371658398
NM_001024688.3:c.606C>G
CA371658402
NM_001024688.3:c.606C>A