Allele Registry

Canonical Allele Identifier: PA2828415470

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV001987304

ClinVar Variation:

1436299

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357333.1:p.Gln1680Lys	CA394313908 NM_001370404.1:c.5038C>A