Canonical Allele Identifier: PA2827009043
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 238031
ClinVar RCV Id: RCV000325835 RCV000567501 RCV000726912 RCV001079391 RCV004532850
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305758.1:p.Glu1192Lys
CA049623
NM_001318829.2:c.3574G>A