Canonical Allele Identifier: PA2828060217
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 135364
ClinVar RCV Id: RCV000122190 RCV000163665 RCV000725780 RCV001080054 RCV003945105
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001349106.1:p.Pro520Ser
CA005597
NM_001362177.1:c.1558C>T