Canonical Allele Identifier: PA2829984236
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 41748
ClinVar RCV Id: RCV000034665 RCV000054862 RCV000055245 RCV000148917 RCV000163344 RCV000178483 RCV000989443 RCV001197128
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_066399.2:p.Arg1752Cys
CA022447
NM_021055.3:c.5254C>T