Canonical Allele Identifier: PA2828060177
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 255948
ClinVar RCV Id: RCV000246586 RCV000475779 RCV001658164 RCV002411112
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001349106.1:p.Glu504Ala
CA10587021
NM_001362177.1:c.1511A>C