Canonical Allele Identifier: PA2828095232
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 468141
ClinVar RCV Id: RCV000543917 RCV002350297 RCV003999325
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350457.1:p.Val1645Leu
CA394312457
NM_001363528.2:c.4933G>C
CA394312460
NM_001363528.2:c.4933G>T