Allele Registry

Canonical Allele Identifier: PA658804994

Gene: TSC2 HGNC NCBI

ClinVar Allele:

530152

ClinVar RCV:

RCV000644337

RCV001013956

ClinVar Variation:

536057

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Pro665Ala	CA394274414 NM_000548.5:c.1993C>G