Canonical Allele Identifier: PA2828414037
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 406131
ClinVar RCV Id: RCV000460658 RCV000607342 RCV001021602 RCV004000727
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357333.1:p.Asp1287Glu
CA049880
NM_001370404.1:c.3861T>A
CA394297754
NM_001370404.1:c.3861T>G