Canonical Allele Identifier: PA2828059259
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 237726
ClinVar RCV Id: RCV000230751 RCV001027171 RCV003237786 RCV003998780 RCV003475059
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001349106.1:p.Ser149Leu
CA10582634
NM_001362177.1:c.446C>T