Canonical Allele Identifier: PA645466072
Gene: NBN HGNC NCBI

Linked Data

ClinVar Variation Id: 230513
ClinVar RCV Id: RCV000219280 RCV000460678 RCV001290554 RCV003469004
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_002476.2:p.Glu617Lys
CA4802667
NM_002485.5:c.1849G>A