Canonical Allele Identifier: PA2828095310
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_001350457.1:p.Arg1663His
CA054348
NM_001363528.2:c.4988G>A