ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139706130
Gene: NBN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
958091
ClinVar RCV Id:
RCV001231194
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002476.2:p.Thr273Lys
CA371658545
NM_002485.5:c.818C>A