Canonical Allele Identifier: PA2825575752
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 406069
ClinVar RCV Id: RCV000570432 RCV000461845 RCV001662421 RCV004000712
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001107854.1:p.Ala1195Val
CA047499
NM_001114382.3:c.3584C>T