Canonical Allele Identifier: PA2828419174
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 389789
ClinVar RCV Id: RCV000571036 RCV000468896 RCV001698259
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357334.1:p.Val991Ile
CA044207
NM_001370405.1:c.2971G>A