ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829980404
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
230453
ClinVar RCV Id:
RCV000219391
RCV000296255
RCV000473048
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066399.2:p.Glu1323Ala
CA050437
NM_021055.3:c.3968A>C