Canonical Allele Identifier: PA2499261736
Gene: NBN HGNC NCBI

Linked Data

ClinVar Variation Id: 1190117
ClinVar RCV Id: RCV001550706
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_002476.2:p.Gln616Lys
CA371677326
NM_002485.5:c.1846C>A