ClinGen Allele Registry
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Canonical Allele Identifier:
PA645465880
Gene: NBN
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
233661
ClinVar RCV:
RCV000218105
RCV001067296
ClinVar Variation:
229678
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002476.2:p.Ile384Met
CA10578769
NM_002485.5:c.1152C>G