ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA167006
Gene: NBN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
141979
ClinVar RCV Id:
RCV000130735
RCV000543794
RCV001547889
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002476.2:p.Glu658Gly
CA167004
NM_002485.5:c.1973A>G