Canonical Allele Identifier: PA916023802
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 65328
ClinVar RCV Id: RCV000055552 RCV000494277 RCV000660343 RCV002415509
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305761.1:p.Val716Met
CA016792
NM_001318832.2:c.2146G>A