Canonical Allele Identifier: PA2827015595
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 387484
ClinVar RCV Id: RCV001088704 RCV000442144 RCV002328973
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305760.1:p.Pro1273Thr
CA16606959
NM_001318831.2:c.3817C>A