Allele Registry

Canonical Allele Identifier: PA658681023

Gene: TSC2 HGNC NCBI

Linked Data

ClinVar RCV:

RCV000527776

RCV000569864

RCV000701092

RCV001020078

RCV001584294

RCV002509519

RCV004527647

ClinVar Variation:

468005

578164

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Val1120Leu	CA276746154 NM_000548.5:c.3358G>T CA394286664 NM_000548.5:c.3358G>C