ClinGen Allele Registry
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Canonical Allele Identifier:
PA192384
Gene: NBN
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000165044
RCV000476294
RCV000588529
RCV001788056
ClinVar Variation:
185597
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002476.2:p.Asn428Asp
CA192382
NM_002485.5:c.1282A>G