Canonical Allele Identifier: PA263191
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 50164
ClinVar RCV Id: RCV000043432 RCV000572792 RCV000842561 RCV001084867
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000539.2:p.Pro378Leu
CA013884
NM_000548.5:c.1133C>T