Allele Registry

Canonical Allele Identifier: PA2828417952

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000122210

RCV000807299

RCV001013672

RCV003997362

RCV004542921

ClinVar Variation:

135373

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357334.1:p.Val638Met	CA016199 NM_001370405.1:c.1912G>A