Canonical Allele Identifier: PA2825919258
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 237715
ClinVar RCV Id: RCV000229256 RCV000563268 RCV001169542 RCV001568881 RCV003998777
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001155898.1:p.Asp1001Val
CA035584
NM_001162426.2:c.3002A>T