Canonical Allele Identifier: PA2825573837
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 135372
ClinVar RCV Id: RCV000122208 RCV000464888 RCV000561143 RCV001086928 RCV003997361
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001107854.1:p.Ala607Val
CA015881
NM_001114382.3:c.1820C>T