Allele Registry

Canonical Allele Identifier: PA2825438453

Gene: TSC2 HGNC NCBI

ClinVar Allele:

477378

ClinVar RCV:

RCV000574628

RCV000706031

ClinVar Variation:

486613

HGVS (amino-acid)	Matching Registered Transcripts
NP_001070651.1:p.Pro1377Ala	CA394301394 NM_001077183.3:c.4129C>G