ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827021015
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
318336
ClinVar RCV Id:
RCV000373763
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305761.1:p.Glu1700Gly
CA10643155
NM_001318832.2:c.5099A>G