Canonical Allele Identifier: PA2825439616
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 406110
ClinVar RCV Id: RCV000471307 RCV004022585
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001070651.1:p.Glu1690Asp
CA16614803
NM_001077183.3:c.5070A>C
CA394315121
NM_001077183.3:c.5070A>T