Canonical Allele Identifier: PA2827002791
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 422850
ClinVar Variation Id: 535905
ClinVar RCV Id: RCV000644131

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305756.1:p.Val849Leu
CA16620093
NM_001318827.2:c.2545G>C
CA394279221
NM_001318827.2:c.2545G>T