Canonical Allele Identifier: PA287921
Gene: NBN HGNC NCBI

Linked Data

ClinVar Variation Id: 127865
ClinVar RCV Id: RCV000115788 RCV000534044 RCV000212755 RCV000780522 RCV000515194
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_002476.2:p.Thr717Ser
CA287919
NM_002485.5:c.2149A>T