Canonical Allele Identifier: PA2828418137
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_001357334.1:p.Arg680Gln
CA035970
NM_001370405.1:c.2039G>A