ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828059376
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1421617
ClinVar RCV Id:
RCV001917009
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001349106.1:p.Thr187Ala
CA375368747
NM_001362177.1:c.559A>G