Canonical Allele Identifier: PA2828414775
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 579053
ClinVar RCV Id: RCV000702237 RCV002334356 RCV003392539
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357333.1:p.Ile1493Thr
CA051935
NM_001370404.1:c.4478T>C