Canonical Allele Identifier: PA2827002596
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 49751
ClinVar RCV Id: RCV000043016 RCV000473440
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305756.1:p.Leu789Pro
CA017496
NM_001318827.2:c.2366T>C