ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825436863
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2037148
ClinVar RCV Id:
RCV002885537
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001070651.1:p.Cys900Arg
CA394279428
NM_001077183.3:c.2698T>C