Canonical Allele Identifier: PA2828060449
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1787199
ClinVar RCV Id: RCV002432832
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001349106.1:p.Ala605Val
CA375360722
NM_001362177.1:c.1814C>T