Allele Registry

Canonical Allele Identifier: PA2825180818

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV001760527

RCV002300577

ClinVar Variation:

1307109

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Cys414Ser	CA394321376 NM_000548.5:c.1240T>A CA394321383 NM_000548.5:c.1241G>C