ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827010547
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_001305758.1:p.His1658Arg
CA10583346
NM_001318829.2:c.4973A>G