Canonical Allele Identifier: PA2828419223
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1728211
ClinVar RCV Id: RCV002320843

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357334.1:p.Leu1008Arg
CA394285304
NM_001370405.1:c.3023T>G