Allele Registry

Canonical Allele Identifier: PA2828095155

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000042604

RCV000553605

ClinVar Variation:

49344

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350457.1:p.Asp1624Tyr	CA021630 NM_001363528.2:c.4870G>T