Canonical Allele Identifier: PA2827008848
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 943389
ClinVar RCV Id: RCV001213568 RCV004033893
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305758.1:p.Ser1129Leu
CA394292082
NM_001318829.2:c.3386C>T