Allele Registry

Canonical Allele Identifier: PA916023697

Gene: TSC2 HGNC NCBI

ClinVar Allele:

203128

ClinVar RCV:

RCV000557012

RCV000570781

RCV001705070

RCV003155114

RCV003996886

ClinVar Variation:

207723

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305761.1:p.Arg650Trp	CA034455 NM_001318832.2:c.1948C>T