Canonical Allele Identifier: PA2828059393
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 582295
ClinVar RCV Id: RCV000706334 RCV002442534 RCV003424301
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001349106.1:p.Ser192Phe
CA039798
NM_001362177.1:c.575C>T