Canonical Allele Identifier: PA2825574124
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2178101
ClinVar RCV Id: RCV002588518 RCV004068834
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001107854.1:p.Val679Ala
CA394274557
NM_001114382.3:c.2036T>C