Canonical Allele Identifier: PA2828093736
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 468046
ClinVar RCV Id: RCV001121242 RCV000546530 RCV002358537 RCV004541711 RCV001531843
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350457.1:p.Ala1231Val
CA276752704
NM_001363528.2:c.3692C>T