Canonical Allele Identifier: PA916022880
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 49248
ClinVar RCV Id: RCV000042507 RCV000229678 RCV003343620
ClinVar Variation Id: 1348312
ClinVar RCV Id: RCV002044253
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305758.1:p.Asp992Glu
CA018744
NM_001318829.2:c.2976C>G
CA394286142
NM_001318829.2:c.2976C>A