Canonical Allele Identifier: PA2825955012
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 49053
ClinVar RCV Id: RCV000042305 RCV000122198 RCV000164135 RCV000228124 RCV000724965 RCV001165738 RCV003964895
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001155899.1:p.Val127Ile
CA007701
NM_001162427.2:c.379G>A