Allele Registry

Canonical Allele Identifier: PA2828411295

Gene: TSC2 HGNC NCBI

ClinVar Allele:

58323

ClinVar RCV:

RCV000042417

RCV001056606

RCV003162356

ClinVar Variation:

49161

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357333.1:p.Leu493Val	CA014935 NM_001370404.1:c.1477C>G