ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825575169
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
49874
ClinVar RCV Id:
RCV000043140
RCV001216513
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001107854.1:p.Leu1027Pro
CA018468
NM_001114382.3:c.3080T>C