Allele Registry

Canonical Allele Identifier: PA2828414504

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000226937

RCV000422566

RCV002315686

RCV003390985

RCV003998828

ClinVar Variation:

238048

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357333.1:p.Ser1422Leu	CA051016 NM_001370404.1:c.4265C>T