Canonical Allele Identifier: PA2827020052
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 12401
ClinVar RCV Id: RCV000013210 RCV000043266 RCV000492813 RCV002316192 RCV003460465
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305761.1:p.Gln1447Pro
CA020573
NM_001318832.2:c.4340A>C