Canonical Allele Identifier: PA287936
Gene: NBN HGNC NCBI

Linked Data

ClinVar Variation Id: 127872
ClinVar RCV Id: RCV000115795 RCV000197783 RCV000509203 RCV000515395 RCV000781635 RCV001356300 RCV003467061
ClinVar Variation Id: 2008778
ClinVar RCV Id: RCV002816679
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_002476.2:p.Met152Ile
CA287934
NM_002485.5:c.456G>A
CA371661585
NM_002485.5:c.456G>T
CA371661588
NM_002485.5:c.456G>C