Canonical Allele Identifier: PA1139689461
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 963229
ClinVar RCV Id: RCV001237228 RCV002447184
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001155898.1:p.Cys306Arg
CA375368758
NM_001162426.2:c.916T>C