Canonical Allele Identifier: PA2827009236
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 230453
ClinVar RCV Id: RCV000219391 RCV000296255 RCV000473048
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305758.1:p.Glu1251Ala
CA050437
NM_001318829.2:c.3752A>C