ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828415931
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000570293
RCV002530345
ClinVar Variation:
486619
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357334.1:p.Lys34Arg
CA027990
NM_001370405.1:c.101A>G