Allele Registry

Canonical Allele Identifier: PA2828418872

Gene: TSC2 HGNC NCBI

ClinVar Allele:

465856

ClinVar RCV:

RCV000559686

RCV002438411

RCV003237913

RCV003999273

ClinVar Variation:

467957

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357334.1:p.Ala894Val	CA040893 NM_001370405.1:c.2681C>T