Canonical Allele Identifier: PA658671923
Gene: NBN HGNC NCBI

Linked Data

ClinVar Variation Id: 481865
ClinVar RCV Id: RCV000566537 RCV000815889
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_002476.2:p.Lys504Arg
CA4802708
NM_002485.5:c.1511A>G