ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828093333
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_001350457.1:p.Ala1110Val
CA394288829
NM_001363528.2:c.3329C>T