Canonical Allele Identifier: PA2828093340
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 535917
ClinVar RCV Id: RCV000644147 RCV002285386 RCV002460101 RCV004004002
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350457.1:p.Pro1113Leu
CA046958
NM_001363528.2:c.3338C>T