Canonical Allele Identifier: PA2825334577
Gene: NBN HGNC NCBI

Linked Data

ClinVar Variation Id: 134878
ClinVar RCV Id: RCV000121625 RCV000129165 RCV000425619 RCV001082237 RCV002225386 RCV002498573 RCV003315763
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001019859.1:p.Pro184Leu
CA161002
NM_001024688.3:c.551C>T