Canonical Allele Identifier: PA2828058993
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 184670
ClinVar RCV Id: RCV000163960 RCV000241553 RCV000766818 RCV001079421
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001349106.1:p.Val6Ile
CA007499
NM_001362177.1:c.16G>A