Canonical Allele Identifier: PA2580276592
Gene: NBN HGNC NCBI

Linked Data

ClinVar Variation Id: 1763567
ClinVar RCV Id: RCV002447661
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_002476.2:p.Pro283Leu
CA371658422
NM_002485.5:c.848C>T