ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829983791
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
405947
ClinVar RCV Id:
RCV000466239
RCV002348291
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066399.2:p.Pro1720Arg
CA16615206
NM_021055.3:c.5159C>G