Canonical Allele Identifier: PA2828091586
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 318315
ClinVar RCV Id: RCV000302466 RCV000518552 RCV000555395 RCV000562015 RCV001545749
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350457.1:p.Ile606Val
CA033640
NM_001363528.2:c.1816A>G