Canonical Allele Identifier: PA2829403603
Gene: NBN HGNC NCBI

Linked Data

ClinVar Variation Id: 3222420
ClinVar RCV Id: RCV004513834
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_002476.2:p.Ser669Ala
CA371676458
NM_002485.5:c.2005T>G