Canonical Allele Identifier: PA2825917194
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1745900
ClinVar RCV Id: RCV002338492
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001155898.1:p.Ala173Glu
CA375372920
NM_001162426.2:c.518C>A