Allele Registry

Canonical Allele Identifier: PA2825181101

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV001011553

ClinVar Variation:

819200

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Gln478Glu	CA394324088 NM_000548.5:c.1432C>G