Canonical Allele Identifier: PA2827012949
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 49774
ClinVar RCV Id: RCV000043039 RCV000233524 RCV001013448 RCV001703938
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305760.1:p.Arg422Gln
CA016094
NM_001318831.2:c.1265G>A