ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829984439
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000644386
RCV001024065
RCV001119439
RCV004533370
ClinVar Variation:
536087
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066399.2:p.Glu1762Lys
CA055360
NM_021055.3:c.5284G>A