Allele Registry

Canonical Allele Identifier: PA658680180

Gene: TSC2 HGNC NCBI

ClinVar Allele:

477410

ClinVar RCV:

RCV000563255

RCV000644191

ClinVar Variation:

486639

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Gly33Ser	CA056868 NM_000548.5:c.97G>A