ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825574717
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000043343
RCV000491444
RCV001852902
ClinVar Variation:
50077
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001107854.1:p.Leu850Pro
CA017661
NM_001114382.3:c.2549T>C