Canonical Allele Identifier: PA2828421874
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 41747
ClinVar RCV Id: RCV000034664 RCV000567483 RCV001088019 RCV004534725
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357334.1:p.Val1743Met
CA022424
NM_001370405.1:c.5227G>A