Canonical Allele Identifier: PA2573222656
Gene: NBN HGNC NCBI

Linked Data

ClinVar Variation Id: 1370386
ClinVar RCV Id: RCV001877138
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_002476.2:p.Leu743Ile
CA181268717
NM_002485.5:c.2227C>A