Canonical Allele Identifier: PA916043227
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 411250
ClinVar RCV Id: RCV000475434 RCV001764439 RCV002348332 RCV003476100
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001349106.1:p.Tyr55Cys
CA16612498
NM_001362177.1:c.164A>G