Allele Registry

Canonical Allele Identifier: PA2828419266

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000402137

RCV000698685

RCV003298377

ClinVar Variation:

318325

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357334.1:p.Leu1023Phe	CA10648022 NM_001370405.1:c.3067C>T