Canonical Allele Identifier: PA2825438974
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 265281
ClinVar RCV Id: RCV000256049 RCV000707658 RCV002338812
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001070651.1:p.Glu1516Lys
CA10588598
NM_001077183.3:c.4546G>A