Canonical Allele Identifier: PA2825955881
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 466025
ClinVar RCV Id: RCV000534300 RCV002257807 RCV001195754 RCV001545105 RCV003999189
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001155899.1:p.Gly392Val
CA375366083
NM_001162427.2:c.1175G>T