Allele Registry

Canonical Allele Identifier: PA2829980095

Gene: TSC2 HGNC NCBI

ClinVar Allele:

58684

ClinVar RCV:

RCV000042782

RCV000541237

RCV000764029

RCV001021518

ClinVar Variation:

49522

HGVS (amino-acid)	Matching Registered Transcripts
NP_066399.2:p.Asp1276Val	CA019742 NM_021055.3:c.3827A>T