Canonical Allele Identifier: PA916043274
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 411222
ClinVar RCV Id: RCV000470360 RCV002307508 RCV003168847 RCV004001892
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001349106.1:p.Ala949Val
CA16612440
NM_001362177.1:c.2846C>T