ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825577334
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000190039
RCV001084596
RCV002336507
ClinVar Variation:
207758
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001107854.1:p.Cys1657Tyr
CA053573
NM_001114382.3:c.4970G>A