Allele Registry

Canonical Allele Identifier: PA289172

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000122231

RCV000227253

RCV000350281

RCV000490949

RCV000858996

RCV004542922

ClinVar Variation:

135385

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Ser1336Leu	CA019831 NM_000548.5:c.4007C>T