ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829972389
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
535893
ClinVar RCV Id:
RCV000644115
RCV002424464
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066399.2:p.Tyr336Cys
CA027968
NM_021055.3:c.1007A>G