ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827018725
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000468858
RCV000575419
RCV001567190
ClinVar Variation:
405953
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305761.1:p.Pro1065Leu
CA045588
NM_001318832.2:c.3194C>T