Allele Registry

Canonical Allele Identifier: PA2829983249

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000043197

RCV000129852

RCV000254730

RCV000459221

RCV000763367

ClinVar Variation:

49930

HGVS (amino-acid)	Matching Registered Transcripts
NP_066399.2:p.Arg1670His	CA021840 NM_021055.3:c.5009G>A