Allele Registry

Canonical Allele Identifier: PA215817

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000034664

RCV000567483

RCV001088019

RCV004534725

ClinVar Variation:

41747

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Val1790Met	CA022424 NM_000548.5:c.5368G>A