ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828091883
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2178101
ClinVar RCV Id:
RCV002588518
RCV004068834
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350457.1:p.Val679Ala
CA394274557
NM_001363528.2:c.2036T>C