Allele Registry

Canonical Allele Identifier: PA916023483

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000213492

RCV000473388

ClinVar Variation:

231820

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305761.1:p.Glu467Gly	CA10579874 NM_001318832.2:c.1400A>G