Canonical Allele Identifier: PA2825334654
Gene: NBN HGNC NCBI

Linked Data

ClinVar Variation Id: 576338
ClinVar RCV Id: RCV000698816

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001019859.1:p.Trp207Arg
CA371658327
NM_001024688.3:c.619T>A
CA371658328
NM_001024688.3:c.619T>C