ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829981508
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
468095
ClinVar RCV Id:
RCV000542919
RCV001764575
RCV002341363
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066399.2:p.His1463Tyr
CA394302760
NM_021055.3:c.4387C>T