ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA206705
Gene: NBN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
142227
ClinVar RCV Id:
RCV000131226
RCV000193311
RCV000168344
RCV000586867
RCV001354986
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002476.2:p.Ser93Leu
CA206703
NM_002485.5:c.278C>T