Canonical Allele Identifier: PA2828411344
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2706252
ClinVar RCV Id: RCV003512940

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357333.1:p.Ala508Pro
CA394326234
NM_001370404.1:c.1522G>C