Allele Registry

Canonical Allele Identifier: PA2827012921

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000227968

ClinVar Variation:

237972

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305760.1:p.Ala414Pro	CA10583299 NM_001318831.2:c.1240G>C