Canonical Allele Identifier: PA2829400250
Gene: NBN HGNC NCBI

Linked Data

ClinVar Variation Id: 1009062
ClinVar RCV Id: RCV002357110 RCV001306498
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_002476.2:p.Asn129Asp
CA371661982
NM_002485.5:c.385A>G