Allele Registry

Canonical Allele Identifier: PA2829978349

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000226848

RCV001019293

RCV003480561

ClinVar Variation:

238015

HGVS (amino-acid)	Matching Registered Transcripts
NP_066399.2:p.Val1030Met	CA044793 NM_021055.3:c.3088G>A