Allele Registry

Canonical Allele Identifier: PA2829980569

Gene: TSC2 HGNC NCBI

ClinVar Allele:

374827

ClinVar RCV:

RCV000426687

RCV003626619

ClinVar Variation:

380381

HGVS (amino-acid)	Matching Registered Transcripts
NP_066399.2:p.Pro1346Ser	CA16607165 NM_021055.3:c.4036C>T