Canonical Allele Identifier: PA2828059308
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 411277
ClinVar RCV Id: RCV000475554 RCV001018033 RCV001591100 RCV003155192 RCV004001908
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001349106.1:p.Pro165Arg
CA039224
NM_001362177.1:c.494C>G