ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827009244
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
135386
ClinVar RCV Id:
RCV000122232
RCV000564577
RCV000644340
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305758.1:p.Arg1254Gln
CA019956
NM_001318829.2:c.3761G>A