ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827007136
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
467887
ClinVar RCV Id:
RCV000542715
RCV002395406
RCV003314613
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305758.1:p.Asp500Gly
CA394267934
NM_001318829.2:c.1499A>G