Canonical Allele Identifier: PA2827004257
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 49812
ClinVar RCV Id: RCV000043078 RCV002326761 RCV001852896
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305756.1:p.Val1304Leu
CA020086
NM_001318827.2:c.3910G>C
CA394300056
NM_001318827.2:c.3910G>T