ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828060430
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1433612
ClinVar RCV Id:
RCV001982299
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001349106.1:p.Leu599Phe
CA375360827
NM_001362177.1:c.1795C>T