Canonical Allele Identifier: PA2827019099
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 50148
ClinVar RCV Id: RCV000043416 RCV000201026 RCV000414012
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305761.1:p.Gly1171Glu
CA019384
NM_001318832.2:c.3512G>A