Allele Registry

Canonical Allele Identifier: PA2825577800

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000034664

RCV000567483

RCV001088019

RCV004534725

ClinVar Variation:

41747

HGVS (amino-acid)	Matching Registered Transcripts
NP_001107854.1:p.Val1767Met	CA022424 NM_001114382.3:c.5299G>A