ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580277142
Gene: NBN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1787976
ClinVar RCV Id:
RCV002428121
RCV003618027
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002476.2:p.Asp742Asn
CA371674758
NM_002485.5:c.2224G>A