ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825438808
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1038007
ClinVar RCV Id:
RCV001341252
RCV002329317
RCV004005172
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001070651.1:p.Pro1471Leu
CA051949
NM_001077183.3:c.4412C>T