Canonical Allele Identifier: PA2828060351
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 41694
ClinVar RCV Id: RCV000034606 RCV000163280 RCV000317696 RCV000515239 RCV001083195 RCV003934882
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001349106.1:p.Arg571Gln
CA005908
NM_001362177.1:c.1712G>A