Allele Registry

Canonical Allele Identifier: PA2825577598

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000043229

RCV003311673

ClinVar Variation:

49962

HGVS (amino-acid)	Matching Registered Transcripts
NP_001107854.1:p.Leu1721Pro	CA022245 NM_001114382.3:c.5162T>C