ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827016041
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
49978
ClinVar RCV Id:
RCV000043245
RCV001238557
RCV002345329
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305760.1:p.Gly1398Asp
CA021290
NM_001318831.2:c.4193G>A