ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825955484
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1421705
ClinVar RCV Id:
RCV001917061
RCV004044122
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001155899.1:p.Leu279Arg
CA375368602
NM_001162427.2:c.836T>G