ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827009789
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
50016
ClinVar RCV Id:
RCV000043284
RCV000695774
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305758.1:p.Asp1420Tyr
CA020751
NM_001318829.2:c.4258G>T