Allele Registry

Canonical Allele Identifier: PA2825435925

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000227968

ClinVar Variation:

237972

HGVS (amino-acid)	Matching Registered Transcripts
NP_001070651.1:p.Ala614Pro	CA10583299 NM_001077183.3:c.1840G>C