Allele Registry

Canonical Allele Identifier: PA2573070289

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV001760527

RCV002300577

ClinVar Variation:

1307109

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305761.1:p.Cys425Ser	CA394321376 NM_001318832.2:c.1273T>A CA394321383 NM_001318832.2:c.1274G>C