Canonical Allele Identifier: PA2825954395
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 207639
ClinVar RCV Id: RCV000189858 RCV000557141
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001155898.1:p.Ser1028Ile
CA319312
NM_001162426.2:c.3083G>T