ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829975238
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
406003
ClinVar RCV Id:
RCV000464533
RCV001310309
RCV001014158
RCV004000691
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066399.2:p.Arg680Gln
CA035970
NM_021055.3:c.2039G>A