Allele Registry

Canonical Allele Identifier: PA2827011147

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000460751

RCV000571306

RCV003470408

RCV004000693

ClinVar Variation:

406006

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305758.1:p.Val485Gly	CA16615042 NM_001318829.2:c.1454T>G