Allele Registry

Canonical Allele Identifier: PA2825437263

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000469143

RCV000574231

ClinVar Variation:

405964

HGVS (amino-acid)	Matching Registered Transcripts
NP_001070651.1:p.Arg1034Trp	CA044888 NM_001077183.3:c.3100C>T CA645573330 NM_001077183.3:c.3099_3100delinsTT