Allele Registry

Canonical Allele Identifier: PA2827019832

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000574628

RCV000706031

ClinVar Variation:

486613

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305761.1:p.Pro1388Ala	CA394301394 NM_001318832.2:c.4162C>G