Canonical Allele Identifier: PA2827020220
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 962721
ClinVar RCV Id: RCV001236628
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305761.1:p.[Ala1490_Gly1495del;Gly1497_Gln1498del]
CA1139664288
NM_001318832.2:c.4469_4492del