ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829981663
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
468105
ClinVar RCV Id:
RCV000538611
RCV002341366
RCV002491059
RCV003999317
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066399.2:p.Arg1486Gln
CA394304453
NM_021055.3:c.4457G>A