ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827013034
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
406009
ClinVar RCV Id:
RCV000467991
RCV000603190
RCV002411434
RCV003392273
RCV004000694
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305760.1:p.Val445Ile
CA034565
NM_001318831.2:c.1333G>A