Canonical Allele Identifier: PA645431920
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 237961
ClinVar RCV Id: RCV000226213 RCV000568157
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000539.2:p.Glu405Gln
CA028805
NM_000548.5:c.1213G>C