ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825576741
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
387484
ClinVar RCV Id:
RCV001088704
RCV000442144
RCV002328973
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001107854.1:p.Pro1494Thr
CA16606959
NM_001114382.3:c.4480C>A