Allele Registry

Canonical Allele Identifier: PA2825434251

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000367424

RCV000470663

RCV000565361

RCV001721240

ClinVar Variation:

207787

HGVS (amino-acid)	Matching Registered Transcripts
NP_001070651.1:p.His76Tyr	CA038111 NM_001077183.3:c.226C>T