Canonical Allele Identifier: PA2825572293
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 207700
ClinVar RCV Id: RCV000189958 RCV000229518 RCV002327021 RCV003996876
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001107854.1:p.Lys144Arg
CA050850
NM_001114382.3:c.431A>G