Canonical Allele Identifier: PA2827003692
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2626434
ClinVar RCV Id: RCV003382414

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305756.1:p.Asp1142Glu
CA394292130
NM_001318827.2:c.3426C>A
CA394292131
NM_001318827.2:c.3426C>G