Canonical Allele Identifier: PA2827000143
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 406100
ClinVar RCV Id: RCV000459248 RCV002411435
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305756.1:p.Cys65Arg
CA16614896
NM_001318827.2:c.193T>C