Allele Registry

Canonical Allele Identifier: PA2828419270

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000525625

RCV004024048

ClinVar Variation:

467994

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357334.1:p.Val1024Leu	CA044723 NM_001370405.1:c.3070G>C