Canonical Allele Identifier: PA319495
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 207738
ClinVar RCV Id: RCV000231299 RCV000561234 RCV001705073 RCV003996891
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000539.2:p.Thr996Ala
CA043628
NM_000548.5:c.2986A>G