ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829976165
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
237986
ClinVar RCV Id:
RCV000230681
RCV002315685
RCV002261015
RCV003998813
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066399.2:p.Ser758Cys
CA10583307
NM_021055.3:c.2273C>G