ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827016081
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
65215
ClinVar RCV Id:
RCV000055434
RCV000989440
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305760.1:p.Ser1409Pro
CA021390
NM_001318831.2:c.4225T>C