Canonical Allele Identifier: PA2828417743
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 65084
ClinVar RCV Id: RCV000055294 RCV000544349 RCV000567865
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357334.1:p.Arg585His
CA015651
NM_001370405.1:c.1754G>A