ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658671661
Gene: NBN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
480031
ClinVar RCV Id:
RCV000574393
RCV000813090
RCV003470831
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002476.2:p.Thr276Ser
CA371658517
NM_002485.5:c.826A>T