Allele Registry

Canonical Allele Identifier: PA2827002549

Gene: TSC2 HGNC NCBI

ClinVar Allele:

465936

ClinVar RCV:

RCV000535705

RCV001015534

RCV003153712

RCV003999270

ClinVar Variation:

467942

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305756.1:p.Val776Met	CA039041 NM_001318827.2:c.2326G>A