Canonical Allele Identifier: PA2828416193
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 65349
ClinVar RCV Id: RCV000055573 RCV001020231 RCV000227736
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357334.1:p.Glu114Lys
CA019111
NM_001370405.1:c.340G>A