Canonical Allele Identifier: PA2828060318
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 48880
ClinVar RCV Id: RCV000042131 RCV002415489
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001349106.1:p.Gly560Ser
CA005830
NM_001362177.1:c.1678G>A