ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825955251
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
237724
ClinVar RCV Id:
RCV000232948
RCV001085260
RCV002255322
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001155899.1:p.Lys210Arg
CA038935
NM_001162427.2:c.629A>G