Canonical Allele Identifier: PA2827010875
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 374159
ClinVar RCV Id: RCV000415290 RCV000466469 RCV001197195 RCV002374622 RCV002285328
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305758.1:p.Val247Met
CA16043501
NM_001318829.2:c.739G>A