Canonical Allele Identifier: PA264681
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 65285
ClinVar RCV Id: RCV000055507 RCV000055604 RCV000190025 RCV000458400 RCV000571810 RCV001703964 RCV004542721
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000539.2:p.Thr1330Met
CA019782
NM_000548.5:c.3989C>T