ClinGen Allele Registry
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Canonical Allele Identifier:
PA299629
Gene: NBN
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
180305
ClinVar RCV:
RCV000160793
RCV000636730
RCV002433715
ClinVar Variation:
182726
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002476.2:p.Ile97Val
CA299627
NM_002485.5:c.289A>G