Canonical Allele Identifier: PA2828061385
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 534460
ClinVar RCV Id: RCV000642027 RCV001548709 RCV002256433
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001349106.1:p.His1031Arg
CA375366342
NM_001362177.1:c.3092A>G