Allele Registry

Canonical Allele Identifier: PA319508

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000190017

RCV001019560

RCV001085830

RCV004537596

ClinVar Variation:

207743

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Gly1091Ser	CA319506 NM_000548.5:c.3271G>A