ClinGen Allele Registry
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Canonical Allele Identifier:
PA645436507
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000234553
RCV000497390
RCV002347870
ClinVar Variation:
238083
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000539.2:p.His1773Arg
CA10583346
NM_000548.5:c.5318A>G