Allele Registry

Canonical Allele Identifier: PA2825438091

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000122231

RCV000227253

RCV000350281

RCV000490949

RCV000858996

RCV004542922

ClinVar Variation:

135385

HGVS (amino-acid)	Matching Registered Transcripts
NP_001070651.1:p.Ser1269Leu	CA019831 NM_001077183.3:c.3806C>T