Canonical Allele Identifier: PA2828059635
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 64790
ClinVar RCV Id: RCV000054977 RCV000474632 RCV000761088 RCV002362687
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001349106.1:p.Leu290Ile
CA004502
NM_001362177.1:c.868C>A