Canonical Allele Identifier: PA2828413911
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_001357333.1:p.Ala1253Val
CA276752704
NM_001370404.1:c.3758C>T