ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825439530
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000473435
RCV001023737
RCV001546269
ClinVar Variation:
406050
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001070651.1:p.Pro1670Leu
CA054450
NM_001077183.3:c.5009C>T