Canonical Allele Identifier: PA1139706196
Gene: NBN HGNC NCBI

Linked Data

ClinVar Variation Id: 938845
ClinVar RCV Id: RCV001208143 RCV002375149
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_002476.2:p.Ser292Leu
CA371658261
NM_002485.5:c.875C>T