Canonical Allele Identifier: PA2828060545
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 411249
ClinVar RCV Id: RCV000467121 RCV000575617 RCV000764812
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001349106.1:p.Arg647His
CA16612757
NM_001362177.1:c.1940G>A