Canonical Allele Identifier: PA2825955590
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 411229
ClinVar RCV Id: RCV000467445 RCV004022868
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001155899.1:p.Pro315Ala
CA16612486
NM_001162427.2:c.943C>G