Allele Registry

Canonical Allele Identifier: PA2825577441

Gene: TSC2 HGNC NCBI

ClinVar Allele:

76298

ClinVar RCV:

RCV000055589

RCV002345361

ClinVar Variation:

65364

HGVS (amino-acid)	Matching Registered Transcripts
NP_001107854.1:p.Leu1685Pro	CA021783 NM_001114382.3:c.5054T>C