ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828420316
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000122232
RCV000564577
RCV000644340
ClinVar Variation:
135386
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357334.1:p.Arg1326Gln
CA019956
NM_001370405.1:c.3977G>A