Canonical Allele Identifier: PA2829980166
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 41738
ClinVar RCV Id: RCV000034655 RCV000054856 RCV000118707 RCV000163277 RCV000462108 RCV003153325
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_066399.2:p.Arg1286His
CA019777
NM_021055.3:c.3857G>A