ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916043280
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
486575
ClinVar RCV Id:
RCV000564766
RCV001510606
RCV003237944
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001349106.1:p.Lys964Glu
CA375366847
NM_001362177.1:c.2890A>G