ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825438772
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1046768
ClinVar RCV Id:
RCV001351367
RCV004005243
RCV004036651
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001070651.1:p.Arg1462Leu
CA394304452
NM_001077183.3:c.4385G>T