Allele Registry

Canonical Allele Identifier: PA2828413463

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000438616

RCV003766401

ClinVar Variation:

390104

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357333.1:p.Pro1114Ala	CA046994 NM_001370404.1:c.3340C>G