Canonical Allele Identifier: PA2828415487
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 207786
ClinVar RCV Id: RCV000230273 RCV001023681 RCV001721239 RCV004539760
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357333.1:p.Arg1685His
CA054348
NM_001370404.1:c.5054G>A