Allele Registry

Canonical Allele Identifier: PA2827009910

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000043361

RCV000820413

ClinVar Variation:

50095

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305758.1:p.Leu1463Pro	CA020960 NM_001318829.2:c.4388T>C