Canonical Allele Identifier: PA2825572468
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 135378
ClinVar RCV Id: RCV000122219 RCV000810100
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001107854.1:p.Val199Leu
CA022614
NM_001114382.3:c.595G>C