ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827002010
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
535908
ClinVar RCV Id:
RCV000644135
RCV001013922
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305756.1:p.Leu626Arg
CA394274401
NM_001318827.2:c.1877T>G