Canonical Allele Identifier: PA2828059134
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1753832
ClinVar RCV Id: RCV002356248

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001349106.1:p.Phe95Leu
CA375371683
NM_001362177.1:c.285T>G
CA375371686
NM_001362177.1:c.285T>A
CA375371696
NM_001362177.1:c.283T>C