Allele Registry

Canonical Allele Identifier: PA2827006197

Gene: TSC2 HGNC NCBI

ClinVar Allele:

242215

ClinVar RCV:

RCV000230979

RCV001025142

RCV003469154

RCV003998842

ClinVar Variation:

238090

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305758.1:p.Ser162Phe	CA10583283 NM_001318829.2:c.485C>T