Canonical Allele Identifier: PA2825575267
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 452351
ClinVar RCV Id: RCV000521882

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001107854.1:p.Thr1059Ser
CA394285482
NM_001114382.3:c.3175A>T
CA394285499
NM_001114382.3:c.3176C>G