ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829978381
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000457622
RCV002446790
ClinVar Variation:
406055
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066399.2:p.Arg1035Gln
CA044900
NM_021055.3:c.3104G>A