Allele Registry

Canonical Allele Identifier: PA2829982797

Gene: TSC2 HGNC NCBI

ClinVar Allele:

27432

ClinVar RCV:

RCV000013201

RCV000043065

RCV000055436

RCV000493720

RCV002345240

RCV002496339

ClinVar Variation:

12393

HGVS (amino-acid)	Matching Registered Transcripts
NP_066399.2:p.Pro1632Leu	CA021526 NM_021055.3:c.4895C>T