Canonical Allele Identifier: PA2827019748
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 486632
ClinVar RCV Id: RCV000568648 RCV000644236 RCV001558891 RCV002476253
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305761.1:p.Gln1363Arg
CA050713
NM_001318832.2:c.4088A>G