Canonical Allele Identifier: PA2827004171
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 65353
ClinVar RCV Id: RCV000055577 RCV000475654 RCV003162432
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305756.1:p.Pro1278Leu
CA020000
NM_001318827.2:c.3833C>T