Canonical Allele Identifier: PA915987539
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 207641
ClinVar RCV Id: RCV000189860 RCV001079866 RCV002256098 RCV003996858
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001155899.1:p.Glu993Lys
CA319317
NM_001162427.2:c.2977G>A