Canonical Allele Identifier: PA2827013182
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 937500
ClinVar RCV Id: RCV001206521 RCV002418687
ClinVar Variation Id: 1052187
ClinVar RCV Id: RCV001360322 RCV003382553
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305760.1:p.Val479Leu
CA394274552
NM_001318831.2:c.1435G>C
CA394274554
NM_001318831.2:c.1435G>T