Canonical Allele Identifier: PA2828421608
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_001357334.1:p.Arg1682His
CA054348
NM_001370405.1:c.5045G>A