ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829972857
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000430283
RCV001861619
ClinVar Variation:
389695
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066399.2:p.Cys414Gly
CA16608029
NM_021055.3:c.1240T>G