Allele Registry

Canonical Allele Identifier: PA2827001815

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000227968

ClinVar Variation:

237972

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305756.1:p.Ala577Pro	CA10583299 NM_001318827.2:c.1729G>C