Canonical Allele Identifier: PA2828059367
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 49125
ClinVar RCV Id: RCV000042380 RCV000432455 RCV002371859
ClinVar Variation Id: 2636244
ClinVar RCV Id: RCV003420893
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001349106.1:p.Gly184Arg
CA008396
NM_001362177.1:c.550G>A
CA375368965
NM_001362177.1:c.550G>C