ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825575384
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000130015
RCV000189914
RCV000471098
RCV003477541
ClinVar Variation:
141472
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001107854.1:p.Pro1092Leu
CA018797
NM_001114382.3:c.3275C>T