Canonical Allele Identifier: PA2827000075
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1442644

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305756.1:p.Ala42Val
CA276768623
NM_001318827.2:c.125C>T