Canonical Allele Identifier: PA2827002219
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 186667
ClinVar RCV Id: RCV000166299 RCV000469825 RCV001589035
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305756.1:p.Arg681His
CA016838
NM_001318827.2:c.2042G>A