Allele Registry

Canonical Allele Identifier: PA2827004686

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000475369

RCV000574084

ClinVar Variation:

207755

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305756.1:p.Ser1423Tyr	CA319534 NM_001318827.2:c.4268C>A