Canonical Allele Identifier: PA2825335771
Gene: NBN HGNC NCBI

Linked Data

ClinVar Variation Id: 239191
ClinVar RCV Id: RCV000234509 RCV000568348 RCV000788461
ClinVar Variation Id: 627700
ClinVar RCV Id: RCV000771415
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001019859.1:p.Pro590Leu
CA4802630
NM_001024688.3:c.1769C>T
CA913187595
NM_001024688.3:c.1769_1770delinsTG