ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827001927
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
838446
ClinVar RCV Id:
RCV001039993
RCV002258095
RCV003328646
RCV003461450
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305756.1:p.Val608Phe
CA034596
NM_001318827.2:c.1822G>T