Allele Registry

Canonical Allele Identifier: PA916023178

Gene: TSC2 HGNC NCBI

ClinVar Allele:

477410

ClinVar RCV:

RCV000563255

RCV000644191

ClinVar Variation:

486639

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305761.1:p.Gly44Ser	CA056868 NM_001318832.2:c.130G>A