Allele Registry

Canonical Allele Identifier: PA645435210

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000330059

RCV000415620

RCV002338901

ClinVar Variation:

318332

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Asp1612Asn	CA10637331 NM_000548.5:c.4834G>A