Allele Registry

Canonical Allele Identifier: PA2829979277

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000435796

RCV001020594

RCV001797719

ClinVar Variation:

384002

HGVS (amino-acid)	Matching Registered Transcripts
NP_066399.2:p.Ala1142Val	CA16607153 NM_021055.3:c.3425C>T