Canonical Allele Identifier: PA2827011166
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 49374
ClinVar RCV Id: RCV000042634 RCV003114223
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305758.1:p.Val1692Leu
CA022509
NM_001318829.2:c.5074G>T
CA394316312
NM_001318829.2:c.5074G>C