Canonical Allele Identifier: PA2827000322
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 468130
ClinVar RCV Id: RCV000547492 RCV000765259 RCV002341371 RCV003470759
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305756.1:p.Trp130Cys
CA053524
NM_001318827.2:c.390G>C
CA394309159
NM_001318827.2:c.390G>T