ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825438899
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000043318
RCV000713940
RCV000989438
RCV002336165
ClinVar Variation:
50052
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001070651.1:p.Leu1495Pro
CA020902
NM_001077183.3:c.4484T>C