Allele Registry

Canonical Allele Identifier: PA2828414339

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000568648

RCV000644236

RCV001558891

RCV002476253

ClinVar Variation:

486632

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357333.1:p.Gln1375Arg	CA050713 NM_001370404.1:c.4124A>G