Allele Registry

Canonical Allele Identifier: PA2827006417

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000527430

RCV000568400

RCV004537594

ClinVar Variation:

207707

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305758.1:p.Ala240Val	CA056623 NM_001318829.2:c.719C>T