ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827002811
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000190005
RCV000644168
RCV002426918
ClinVar Variation:
207734
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305756.1:p.Ile856Thr
CA319484
NM_001318827.2:c.2567T>C