Canonical Allele Identifier: PA2828420308
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_001357334.1:p.Glu1323Ala
CA050437
NM_001370405.1:c.3968A>C