Canonical Allele Identifier: PA2825334655
Gene: NBN HGNC NCBI

Linked Data

ClinVar Variation Id: 411768
ClinVar RCV Id: RCV000475235 RCV003168857
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001019859.1:p.Trp207Cys
CA16612369
NM_001024688.3:c.621G>T
CA371658317
NM_001024688.3:c.621G>C