Canonical Allele Identifier: PA2828060391
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 820652
ClinVar RCV Id: RCV001014317 RCV001299229 RCV003473572
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001349106.1:p.Arg585His
CA375361015
NM_001362177.1:c.1754G>A