ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828060850
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
534452
ClinVar RCV Id:
RCV000642018
RCV002424445
RCV004003960
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001349106.1:p.Arg787Gln
CA034413
NM_001362177.1:c.2360G>A