Canonical Allele Identifier: PA2825917661
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 486593
ClinVar RCV Id: RCV000567662 RCV001836841 RCV004001140
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001155898.1:p.Ala427Val
CA375366183
NM_001162426.2:c.1280C>T