Allele Registry

Canonical Allele Identifier: PA658680247

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000546307

RCV000575589

RCV003459240

RCV003999279

ClinVar Variation:

467970

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Arg93Gln	CA394305714 NM_000548.5:c.278G>A