Allele Registry

Canonical Allele Identifier: PA645435254

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000480140

RCV000555170

ClinVar Variation:

424444

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Val1646Met	CA16620103 NM_000548.5:c.4936G>A