ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827008225
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000554781
RCV002438413
RCV003999276
ClinVar Variation:
467964
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305758.1:p.Arg868Trp
CA041738
NM_001318829.2:c.2602C>T