Allele Registry

Canonical Allele Identifier: PA916023740

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000644337

RCV001013956

ClinVar Variation:

536057

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305761.1:p.Pro676Ala	CA394274414 NM_001318832.2:c.2026C>G