Canonical Allele Identifier: PA2827002083
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 406003
ClinVar RCV Id: RCV000464533 RCV001310309 RCV001014158 RCV004000691
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305756.1:p.Arg643Gln
CA035970
NM_001318827.2:c.1928G>A