Canonical Allele Identifier: PA2827011482
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 391969
ClinVar RCV Id: RCV000432659 RCV001015871 RCV001079672 RCV004000567
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305758.1:p.Thr800Ala
CA16607307
NM_001318829.2:c.2398A>G