Canonical Allele Identifier: PA2827011699
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 406116
ClinVar RCV Id: RCV000524092 RCV001080775 RCV002379425 RCV004000722
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305760.1:p.Ser118Phe
CA16614697
NM_001318831.2:c.353C>T