ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827017131
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000055314
RCV000533936
RCV001553178
RCV002255276
ClinVar Variation:
65103
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305761.1:p.Arg219Trp
CA022695
NM_001318832.2:c.655C>T