Canonical Allele Identifier: PA2827009220
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 535922
ClinVar RCV Id: RCV000644152 RCV003162911
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305758.1:p.Glu1245Lys
CA050377
NM_001318829.2:c.3733G>A