Canonical Allele Identifier: PA2828419219
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 936312
ClinVar RCV Id: RCV001205088

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357334.1:p.Glu1006Gln
CA394285219
NM_001370405.1:c.3016G>C