Canonical Allele Identifier: PA2828091873
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 384076
ClinVar RCV Id: RCV000439541 RCV000470228 RCV001014141 RCV004000404
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350457.1:p.Pro677Leu
CA035873
NM_001363528.2:c.2030C>T