Canonical Allele Identifier: PA658671442
Gene: NBN HGNC NCBI

Linked Data

ClinVar Variation Id: 483961
ClinVar RCV Id: RCV000570692 RCV000636702 RCV003322792 RCV003465240
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_002476.2:p.Met83Leu
CA181280588
NM_002485.5:c.247A>T
CA371662486
NM_002485.5:c.247A>C