ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827016578
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
238083
ClinVar RCV Id:
RCV000234553
RCV000497390
RCV002347870
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305760.1:p.His1529Arg
CA10583346
NM_001318831.2:c.4586A>G