Allele Registry

Canonical Allele Identifier: PA2827007511

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000644337

RCV001013956

ClinVar Variation:

536057

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305758.1:p.Pro616Ala	CA394274414 NM_001318829.2:c.1846C>G