ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825437502
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000190077
RCV000644198
RCV002453704
ClinVar Variation:
207784
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001070651.1:p.Leu1098Pro
CA319595
NM_001077183.3:c.3293T>C