ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829970218
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_066399.2:p.Pro28His
CA16607134
NM_021055.3:c.83C>A