Allele Registry

Canonical Allele Identifier: PA2829976380

Gene: TSC2 HGNC NCBI

ClinVar Allele:

401494

3771357

ClinVar RCV:

RCV000456253

RCV002451090

RCV004000723

RCV005112322

ClinVar Variation:

406123

3637203

HGVS (amino-acid)	Matching Registered Transcripts
NP_066399.2:p.Met788Ile	CA038757 NM_021055.3:c.2364G>A CA394276962 NM_021055.3:c.2364G>C CA394276964 NM_021055.3:c.2364G>T