Canonical Allele Identifier: PA2573226731
Gene: NBN HGNC NCBI

Linked Data

ClinVar Variation Id: 1468831
ClinVar RCV Id: RCV001969187
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_002476.2:p.Lys627Asn
CA371677248
NM_002485.5:c.1881G>T
CA371677249
NM_002485.5:c.1881G>C