Canonical Allele Identifier: PA2828415489
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 49867
ClinVar RCV Id: RCV000043133 RCV000567321 RCV000459372 RCV001697038 RCV004541227
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357333.1:p.Arg1685Cys
CA022096
NM_001370404.1:c.5053C>T