Canonical Allele Identifier: PA2828411037
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 389695
ClinVar RCV Id: RCV000430283 RCV001861619
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357333.1:p.Cys414Gly
CA16608029
NM_001370404.1:c.1240T>G