Canonical Allele Identifier: PA2825437649
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 468021
ClinVar RCV Id: RCV000527232 RCV000764028 RCV002225656 RCV000567911
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001070651.1:p.Ala1140Val
CA394289510
NM_001077183.3:c.3419C>T