Canonical Allele Identifier: PA2825955023
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 64818
ClinVar RCV Id: RCV000055010 RCV002273951
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001155899.1:p.His130Pro
CA007715
NM_001162427.2:c.389A>C