Canonical Allele Identifier: PA2828060699
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 821385
ClinVar RCV Id: RCV001015743 RCV003442145 RCV004004548
ClinVar Variation Id: 1792448
ClinVar RCV Id: RCV002432974
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001349106.1:p.Ser717Arg
CA375370320
NM_001362177.1:c.2151T>G
CA375370323
NM_001362177.1:c.2151T>A
CA375370333
NM_001362177.1:c.2149A>C