Canonical Allele Identifier: PA2825954248
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 207617
ClinVar RCV Id: RCV000189822 RCV000819696 RCV001017516 RCV003488444
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001155898.1:p.Lys975Glu
CA319252
NM_001162426.2:c.2923A>G