ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827018919
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2723932
ClinVar RCV Id:
RCV003513340
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305761.1:p.Ala1120Val
CA394288829
NM_001318832.2:c.3359C>T