Canonical Allele Identifier: PA1139707120
Gene: NBN HGNC NCBI

Linked Data

ClinVar Variation Id: 948266
ClinVar RCV Id: RCV001219487
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_002476.2:p.His507Pro
CA371655680
NM_002485.5:c.1520A>C