ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827019131
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1715087
ClinVar RCV Id:
RCV002299379
RCV002346581
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305761.1:p.Leu1183Phe
CA394291933
NM_001318832.2:c.3547C>T