Canonical Allele Identifier: PA2573226643
Gene: NBN HGNC NCBI

Linked Data

ClinVar Variation Id: 1462995
ClinVar RCV Id: RCV001994955
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_002476.2:p.Lys544Arg
CA371655443
NM_002485.5:c.1631A>G