Canonical Allele Identifier: PA2825957883
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 49015
ClinVar RCV Id: RCV000042266 RCV000189827 RCV000227692 RCV000563572 RCV001093203 RCV001167647 RCV003915005
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001155899.1:p.Arg1011Trp
CA007223
NM_001162427.2:c.3031C>T