ClinGen Allele Registry
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Canonical Allele Identifier:
PA287915
Gene: NBN
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
133320
ClinVar RCV:
RCV000115786
RCV000212753
RCV000230585
RCV000515337
RCV001328956
RCV001778709
RCV003915124
ClinVar Variation:
127863
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002476.2:p.Ser667Pro
CA287913
NM_002485.5:c.1999T>C