Canonical Allele Identifier: PA2828413104
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 3073716
ClinVar RCV Id: RCV004016722
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357333.1:p.Lys1014Glu
CA394285456
NM_001370404.1:c.3040A>G