Canonical Allele Identifier: PA2828095528
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 514715
ClinVar RCV Id: RCV000604792 RCV000644420 RCV002258972
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350457.1:p.Gln1713Arg
CA055149
NM_001363528.2:c.5138A>G