Allele Registry

Canonical Allele Identifier: PA2825575354

Gene: TSC2 HGNC NCBI

ClinVar Allele:

400774

ClinVar RCV:

RCV000463902

RCV000571612

ClinVar Variation:

406094

HGVS (amino-acid)	Matching Registered Transcripts
NP_001107854.1:p.Ser1085Leu	CA16614705 NM_001114382.3:c.3254C>T