Canonical Allele Identifier: PA2827001813
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 49721
ClinVar RCV Id: RCV000042985 RCV002514169
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305756.1:p.Ala577Asp
CA016019
NM_001318827.2:c.1730C>A