Canonical Allele Identifier: PA2825955056
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 49057
ClinVar RCV Id: RCV000042310 RCV000130555 RCV000225932 RCV001703930 RCV001727549 RCV003915006
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001155899.1:p.Arg139Cys
CA007757
NM_001162427.2:c.415C>T