Allele Registry

Canonical Allele Identifier: PA645435263

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000228578

RCV000761036

RCV001023346

ClinVar Variation:

238071

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Phe1657Tyr	CA10583340 NM_000548.5:c.4970T>A