Canonical Allele Identifier: PA2828059386
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 231741
ClinVar RCV Id: RCV000221166 RCV000966584 RCV003417788 RCV003997921
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001349106.1:p.Pro190Arg
CA039782
NM_001362177.1:c.569C>G