ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829976893
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000055123
RCV001253278
ClinVar Variation:
64921
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066399.2:p.Leu844Pro
CA017563
NM_021055.3:c.2531T>C