Canonical Allele Identifier: PA2828418767
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_001357334.1:p.Ala862Val
CA017697
NM_001370405.1:c.2585C>T