Canonical Allele Identifier: PA2827008129
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 49714
ClinVar RCV Id: RCV000042978

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305758.1:p.Phe832Leu
CA017793
NM_001318829.2:c.2494T>C
CA394279156
NM_001318829.2:c.2496T>A
CA394279157
NM_001318829.2:c.2496T>G