Canonical Allele Identifier: PA187936
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 184138
ClinVar RCV Id: RCV000163295 RCV000189884 RCV000726305 RCV001081464 RCV001120921 RCV004544488
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000539.2:p.Ala415Val
CA014143
NM_000548.5:c.1244C>T