Allele Registry

Canonical Allele Identifier: PA2828413974

Gene: TSC2 HGNC NCBI

ClinVar Allele:

75877

ClinVar RCV:

RCV000055150

RCV001853088

RCV002371894

ClinVar Variation:

64947

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357333.1:p.Pro1271Ser	CA019722 NM_001370404.1:c.3811C>T