Allele Registry

Canonical Allele Identifier: PA319385

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000189928

RCV001852522

RCV003298247

ClinVar Variation:

207682

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Asp1400Asn	CA319383 NM_000548.5:c.4198G>A