Allele Registry

Canonical Allele Identifier: PA2828413575

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000469044

RCV001020619

RCV001721231

ClinVar Variation:

207678

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357333.1:p.Leu1145Val	CA319374 NM_001370404.1:c.3433C>G