Canonical Allele Identifier: PA2828095312
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 49867
ClinVar RCV Id: RCV000043133 RCV000567321 RCV000459372 RCV001697038 RCV004541227
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350457.1:p.Arg1663Cys
CA022096
NM_001363528.2:c.4987C>T