Canonical Allele Identifier: PA916043284
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 195727
ClinVar RCV Id: RCV000642039 RCV000724617 RCV003298222 RCV003474931 RCV003995684
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001349106.1:p.Arg972Gln
CA007291
NM_001362177.1:c.2915G>A