Canonical Allele Identifier: PA2825954513
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 486575
ClinVar RCV Id: RCV000564766 RCV001510606 RCV003237944
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001155898.1:p.Lys1084Glu
CA375366847
NM_001162426.2:c.3250A>G