Allele Registry

Canonical Allele Identifier: PA2825577878

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000034666

RCV000467233

RCV001024070

RCV001081523

RCV002348290

ClinVar Variation:

41749

405942

HGVS (amino-acid)	Matching Registered Transcripts
NP_001107854.1:p.Phe1783Leu	CA022504 NM_001114382.3:c.5349T>G CA16615055 NM_001114382.3:c.5347T>C CA394316293 NM_001114382.3:c.5349T>A