ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827020227
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1519233
ClinVar RCV Id:
RCV002024455
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305761.1:p.Tyr1493His
CA394304973
NM_001318832.2:c.4477T>C