Canonical Allele Identifier: PA2827013923
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 467957
ClinVar RCV Id: RCV000559686 RCV002438411 RCV003237913 RCV003999273
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305760.1:p.Ala694Val
CA040893
NM_001318831.2:c.2081C>T