Canonical Allele Identifier: PA2828060238
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 466052
ClinVar RCV Id: RCV000552146 RCV002413536 RCV003235281 RCV003999200
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001349106.1:p.Asp529Gly
CA200888178
NM_001362177.1:c.1586A>G