ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825571909
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
385045
ClinVar RCV Id:
RCV000428159
RCV000468568
RCV002436294
RCV004000421
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001107854.1:p.Pro28His
CA16607134
NM_001114382.3:c.83C>A