ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828091648
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
49774
ClinVar RCV Id:
RCV000043039
RCV000233524
RCV001013448
RCV001703938
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350457.1:p.Arg622Gln
CA016094
NM_001363528.2:c.1865G>A