ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827006214
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
65337
ClinVar RCV Id:
RCV000055561
RCV001053191
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305758.1:p.Leu170Pro
CA022749
NM_001318829.2:c.509T>C