Allele Registry

Canonical Allele Identifier: PA2828412719

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000042847

RCV000201152

RCV002433527

ClinVar Variation:

49586

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357333.1:p.Ala889Val	CA017841 NM_001370404.1:c.2666C>T