Canonical Allele Identifier: PA645465221
Gene: NBN HGNC NCBI

Linked Data

ClinVar Variation Id: 411781
ClinVar RCV Id: RCV000462437 RCV000572489
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_002476.2:p.Ser72Phe
CA16612677
NM_002485.5:c.215C>T