Canonical Allele Identifier: PA2828095523
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 468159
ClinVar RCV Id: RCV003114667 RCV000560567 RCV003459244 RCV004527649
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350457.1:p.Ala1712Val
CA394315621
NM_001363528.2:c.5135C>T