ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829976059
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000644353
RCV001558093
RCV002422327
RCV004004042
ClinVar Variation:
536065
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066399.2:p.Arg749Trp
CA037721
NM_021055.3:c.2245C>T