ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828060444
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
207635
ClinVar RCV Id:
RCV000189854
RCV003372645
RCV003505102
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001349106.1:p.Ile603Thr
CA319301
NM_001362177.1:c.1808T>C