ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828059160
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1375064
ClinVar RCV Id:
RCV001879477
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001349106.1:p.His105Asp
CA375371481
NM_001362177.1:c.313C>G