Canonical Allele Identifier: PA916022964
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 480835
ClinVar RCV Id: RCV000567862 RCV001035509 RCV002291670
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305760.1:p.Tyr74Cys
CA394313259
NM_001318831.2:c.221A>G