Canonical Allele Identifier: PA2828060549
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 385369
ClinVar RCV Id: RCV000424798 RCV001861557 RCV002256231
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001349106.1:p.Met650Val
CA16605547
NM_001362177.1:c.1948A>G