Canonical Allele Identifier: PA2825954995
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_001155899.1:p.Ala122Glu
CA375372920
NM_001162427.2:c.365C>A