ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA194072
Gene: NBN
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000165721
RCV000812346
RCV003153447
ClinVar Variation:
186176
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002476.2:p.Asn79Asp
CA194070
NM_002485.5:c.235A>G