Canonical Allele Identifier: PA2828059374
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 800246
ClinVar RCV Id: RCV000983929 RCV002372704
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001349106.1:p.Ala186Val
CA039745
NM_001362177.1:c.557C>T