Canonical Allele Identifier: PA916043218
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 466146
ClinVar RCV Id: RCV000529494 RCV001023453 RCV001653899 RCV003476285 RCV003999228
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001349106.1:p.Lys47Thr
CA200901566
NM_001362177.1:c.140A>C