Canonical Allele Identifier: PA2828060315
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 48876
ClinVar RCV Id: RCV000042127 RCV000226639 RCV002256018
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001349106.1:p.Gly559Glu
CA005810
NM_001362177.1:c.1676G>A