Canonical Allele Identifier: PA2825335683
Gene: NBN HGNC NCBI

Linked Data

ClinVar Variation Id: 185635
ClinVar RCV Id: RCV000165086 RCV000473926 RCV001589032 RCV003317120 RCV003474864
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001019859.1:p.Ser556Tyr
CA192486
NM_001024688.3:c.1667C>A