Canonical Allele Identifier: PA2827009769
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 468105
ClinVar RCV Id: RCV000538611 RCV002341366 RCV002491059 RCV003999317
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305758.1:p.Arg1414Gln
CA394304453
NM_001318829.2:c.4241G>A