ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA160968
Gene: NBN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
134873
ClinVar RCV Id:
RCV000121613
RCV000129788
RCV000167890
RCV000588734
RCV002225383
RCV003389699
RCV003474728
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002476.2:p.Asp469Tyr
CA160966
NM_002485.5:c.1405G>T