Canonical Allele Identifier: PA2827015473
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 535928
ClinVar RCV Id: RCV000644158 RCV002331189 RCV004004004
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305760.1:p.Thr1241Ile
CA051214
NM_001318831.2:c.3722C>T