Canonical Allele Identifier: PA2828093922
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 486606
ClinVar RCV Id: RCV000561137 RCV000685152 RCV004001147
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350457.1:p.Ser1280Leu
CA050248
NM_001363528.2:c.3839C>T