Canonical Allele Identifier: PA2829979497
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1392807
ClinVar RCV Id: RCV001912404 RCV002458744
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_066399.2:p.Ser1177Phe
CA394292073
NM_021055.3:c.3530C>T