Allele Registry

Canonical Allele Identifier: PA2827009543

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000226937

RCV000422566

RCV002315686

RCV003390985

RCV003998828

ClinVar Variation:

238048

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305758.1:p.Ser1351Leu	CA051016 NM_001318829.2:c.4052C>T