Allele Registry

Canonical Allele Identifier: PA2829976559

Gene: TSC2 HGNC NCBI

ClinVar Allele:

465936

ClinVar RCV:

RCV000535705

RCV001015534

RCV003153712

RCV003999270

ClinVar Variation:

467942

HGVS (amino-acid)	Matching Registered Transcripts
NP_066399.2:p.Val813Met	CA039041 NM_021055.3:c.2437G>A