ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827008074
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
185434
ClinVar RCV Id:
RCV000164859
RCV000407000
RCV001086946
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305758.1:p.Ala813Thr
CA017691
NM_001318829.2:c.2437G>A