Allele Registry

Canonical Allele Identifier: PA2827009470

Gene: TSC2 HGNC NCBI

ClinVar Allele:

477378

ClinVar RCV:

RCV000574628

RCV000706031

ClinVar Variation:

486613

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305758.1:p.Pro1329Ala	CA394301394 NM_001318829.2:c.3985C>G