ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827020936
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
825547
ClinVar RCV Id:
RCV001023728
RCV002551879
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305761.1:p.Pro1681Ala
CA394314331
NM_001318832.2:c.5041C>G