ClinGen Allele Registry
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Canonical Allele Identifier:
PA645465688
Gene: NBN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
231708
ClinVar RCV Id:
RCV000213516
RCV000764789
RCV000817138
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002476.2:p.Asp121His
CA4802992
NM_002485.5:c.361G>C