Canonical Allele Identifier: PA2827000446
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 184164
ClinVar RCV Id: RCV000163340 RCV000189966 RCV000229264 RCV000347186 RCV001721043
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305756.1:p.Ala173Thr
CA022705
NM_001318827.2:c.517G>A