Allele Registry

Canonical Allele Identifier: PA916023521

Gene: TSC2 HGNC NCBI

ClinVar Allele:

58323

ClinVar RCV:

RCV000042417

RCV001056606

RCV003162356

ClinVar Variation:

49161

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305761.1:p.Leu504Val	CA014935 NM_001318832.2:c.1510C>G