ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916043269
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
466123
ClinVar RCV Id:
RCV000527076
RCV000562217
RCV003999219
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001349106.1:p.Arg941Gln
CA036127
NM_001362177.1:c.2822G>A