ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828419835
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
406092
ClinVar RCV Id:
RCV000475309
RCV002348295
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357334.1:p.Gln1186Arg
CA16614724
NM_001370405.1:c.3557A>G