ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828060521
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
466072
ClinVar RCV Id:
RCV000567937
RCV000988275
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001349106.1:p.Tyr640His
CA032032
NM_001362177.1:c.1918T>C