Allele Registry

Canonical Allele Identifier: PA2828414423

Gene: TSC2 HGNC NCBI

ClinVar Allele:

477378

ClinVar RCV:

RCV000574628

RCV000706031

ClinVar Variation:

486613

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357333.1:p.Pro1400Ala	CA394301394 NM_001370404.1:c.4198C>G