Canonical Allele Identifier: PA2827014811
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 41736
ClinVar RCV Id: RCV000034653 RCV000054864 RCV000122229 RCV000129666 RCV000231518
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305760.1:p.Ala1053Thr
CA019668
NM_001318831.2:c.3157G>A