ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827007299
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1460814
ClinVar RCV Id:
RCV001951747
RCV002274240
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305758.1:p.Ile557Met
CA394272983
NM_001318829.2:c.1671C>G