ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827009334
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000189928
RCV001852522
RCV003298247
ClinVar Variation:
207682
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305758.1:p.Asp1285Asn
CA319383
NM_001318829.2:c.3853G>A