ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827009558
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
406115
ClinVar RCV Id:
RCV000472949
RCV002256249
RCV004000721
RCV003237849
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305758.1:p.Arg1355His
CA16614762
NM_001318829.2:c.4064G>A