Allele Registry

Canonical Allele Identifier: PA2827001118

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV001760527

RCV002300577

ClinVar Variation:

1307109

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305756.1:p.Cys377Ser	CA394321376 NM_001318827.2:c.1129T>A CA394321383 NM_001318827.2:c.1130G>C