ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645466067
Gene: NBN
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000483770
RCV000551607
RCV000567792
RCV000985869
ClinVar Variation:
420214
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002476.2:p.Ile614Met
CA4802680
NM_002485.5:c.1842A>G