Canonical Allele Identifier: PA2825576561
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 406115
ClinVar RCV Id: RCV000472949 RCV002256249 RCV004000721 RCV003237849
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001107854.1:p.Arg1447His
CA16614762
NM_001114382.3:c.4340G>A