ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827012976
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
406129
ClinVar RCV Id:
RCV000460911
RCV002256251
RCV004000726
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305760.1:p.Arg428Cys
CA034358
NM_001318831.2:c.1282C>T