Allele Registry

Canonical Allele Identifier: PA2825577068

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000547996

RCV002330908

ClinVar Variation:

468115

HGVS (amino-acid)	Matching Registered Transcripts
NP_001107854.1:p.Tyr1585Cys	CA052633 NM_001114382.3:c.4754A>G