Canonical Allele Identifier: PA2827006440
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 283532
ClinVar RCV Id: RCV000394048 RCV000570041 RCV001089419
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305758.1:p.Phe249Ser
CA056651
NM_001318829.2:c.746T>C