Canonical Allele Identifier: PA2827013517
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 467936
ClinVar RCV Id: RCV000544312 RCV000571953 RCV003225085
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305760.1:p.Ala572Val
CA038376
NM_001318831.2:c.1715C>T