ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827016404
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
951296
ClinVar RCV Id:
RCV001223171
RCV003322869
RCV003469387
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305760.1:p.Thr1489Pro
CA394314222
NM_001318831.2:c.4465A>C