ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827008361
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
49874
ClinVar RCV Id:
RCV000043140
RCV001216513
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305758.1:p.Leu935Pro
CA018468
NM_001318829.2:c.2804T>C