ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825955003
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1746284
ClinVar RCV Id:
RCV002344334
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001155899.1:p.Val124Ile
CA375372898
NM_001162427.2:c.370G>A