ClinGen Allele Registry
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Canonical Allele Identifier:
PA645466046
Gene: NBN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
411789
ClinVar RCV Id:
RCV000461649
RCV000567576
RCV000679454
RCV001358087
RCV002282161
RCV002475888
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002476.2:p.Glu585Gly
CA4802685
NM_002485.5:c.1754A>G