Allele Registry

Canonical Allele Identifier: PA2573170481

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV001975922

RCV001983588

RCV002246632

ClinVar Variation:

1472268

1490108

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Val1646Leu	CA394308719 NM_000548.5:c.4936G>C CA394308723 NM_000548.5:c.4936G>T