Canonical Allele Identifier: PA2828059643
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 411267
ClinVar RCV Id: RCV000457363 RCV000568537 RCV002489078 RCV004001905
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001349106.1:p.Gln292Arg
CA16612643
NM_001362177.1:c.875A>G