Allele Registry

Canonical Allele Identifier: PA916022881

Gene: TSC2 HGNC NCBI

ClinVar Allele:

400774

ClinVar RCV:

RCV000463902

RCV000571612

ClinVar Variation:

406094

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305758.1:p.Ser993Leu	CA16614705 NM_001318829.2:c.2978C>T