Canonical Allele Identifier: PA2825334680
Gene: NBN HGNC NCBI

Linked Data

ClinVar Variation Id: 1764994
ClinVar RCV Id: RCV002376004
ClinVar Variation Id: 1803608
ClinVar RCV Id: RCV002467278

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001019859.1:p.Met214Ile
CA371658187
NM_001024688.3:c.642G>T
CA371658189
NM_001024688.3:c.642G>C
CA371658192
NM_001024688.3:c.642G>A