Canonical Allele Identifier: PA287942
Gene: NBN HGNC NCBI

Linked Data

ClinVar Variation Id: 127874
ClinVar RCV Id: RCV000115798 RCV000235189 RCV000461206 RCV000515203
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_002476.2:p.Pro199Ser
CA287940
NM_002485.5:c.595C>T