ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827015939
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
49325
ClinVar RCV Id:
RCV000042585
RCV000201210
RCV001283509
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305760.1:p.Ile1370del
CA021081
NM_001318831.2:c.4110_4112del