ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829977006
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
237996
ClinVar RCV Id:
RCV000230556
RCV001091442
RCV002429101
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066399.2:p.Tyr857Cys
CA10583311
NM_021055.3:c.2570A>G