Canonical Allele Identifier: PA2828093563
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2626434
ClinVar RCV Id: RCV003382414

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350457.1:p.Asp1179Glu
CA394292130
NM_001363528.2:c.3537C>A
CA394292131
NM_001363528.2:c.3537C>G