ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827007393
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
379559
ClinVar RCV Id:
RCV000546851
RCV000444052
RCV002411311
RCV000767144
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305758.1:p.Gly581Asp
CA16606929
NM_001318829.2:c.1742G>A