Allele Registry

Canonical Allele Identifier: PA2825577376

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000042604

RCV000553605

ClinVar Variation:

49344

HGVS (amino-acid)	Matching Registered Transcripts
NP_001107854.1:p.Asp1667Tyr	CA021630 NM_001114382.3:c.4999G>T