Canonical Allele Identifier: PA2499240243
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1062071
ClinVar RCV Id: RCV001371745
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001155898.1:p.Val227Glu
CA375371461
NM_001162426.2:c.680T>A