Canonical Allele Identifier: PA2827008075
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 50078
ClinVar RCV Id: RCV000043344 RCV000612238 RCV001087230 RCV002255269
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305758.1:p.Ala813Val
CA017697
NM_001318829.2:c.2438C>T