Allele Registry

Canonical Allele Identifier: PA2829982938

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000042703

RCV003626600

ClinVar Variation:

49443

HGVS (amino-acid)	Matching Registered Transcripts
NP_066399.2:p.Asp1647His	CA021629 NM_021055.3:c.4939G>C