Allele Registry

Canonical Allele Identifier: PA645433659

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000435216

RCV001080300

RCV002257673

ClinVar Variation:

381049

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Thr1260Met	CA048383 NM_000548.5:c.3779C>T