Allele Registry

Canonical Allele Identifier: PA2829982933

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000644178

ClinVar Variation:

535944

HGVS (amino-acid)	Matching Registered Transcripts
NP_066399.2:p.Asp1647Asn	CA394311729 NM_021055.3:c.4939G>A