Canonical Allele Identifier: PA916022843
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 207742
ClinVar RCV Id: RCV000531095 RCV000765271 RCV002321770
ClinVar Variation Id: 3232136
ClinVar RCV Id: RCV004520819
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305756.1:p.Gly996Arg
CA044834
NM_001318827.2:c.2986G>A
CA394285992
NM_001318827.2:c.2986G>C