Allele Registry

Canonical Allele Identifier: PA2828413188

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000042507

RCV000229678

RCV002044253

RCV003343620

ClinVar Variation:

49248

1348312

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357333.1:p.Asp1040Glu	CA018744 NM_001370404.1:c.3120C>G CA394286142 NM_001370404.1:c.3120C>A