ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828060225
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
534441
ClinVar RCV Id:
RCV001013644
RCV001496179
RCV001554285
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001349106.1:p.Pro524Leu
CA375362586
NM_001362177.1:c.1571C>T