Canonical Allele Identifier: PA2825573423
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 49161
ClinVar RCV Id: RCV000042417 RCV001056606 RCV003162356
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001107854.1:p.Leu493Val
CA014935
NM_001114382.3:c.1477C>G