Canonical Allele Identifier: PA916043241
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 49061
ClinVar RCV Id: RCV000042314 RCV002266912
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001349106.1:p.Leu70Arg
CA007790
NM_001362177.1:c.209T>G