ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827020153
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_001305761.1:p.Arg1473Gln
CA394304453
NM_001318832.2:c.4418G>A