Allele Registry

Canonical Allele Identifier: PA2828421066

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000043361

RCV000820413

ClinVar Variation:

50095

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357334.1:p.Leu1535Pro	CA020960 NM_001370405.1:c.4604T>C