Allele Registry

Canonical Allele Identifier: PA2827016227

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000042604

RCV000553605

ClinVar Variation:

49344

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305760.1:p.Asp1446Tyr	CA021630 NM_001318831.2:c.4336G>T