ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825574134
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
237977
ClinVar RCV Id:
RCV000226719
RCV001014169
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001107854.1:p.Leu681Gln
CA10583301
NM_001114382.3:c.2042T>A