Allele Registry

Canonical Allele Identifier: PA319462

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000557012

RCV000570781

RCV001705070

RCV003155114

RCV003996886

ClinVar Variation:

207723

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Arg639Trp	CA034455 NM_000548.5:c.1915C>T