ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827005064
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
135390
ClinVar RCV Id:
RCV000122239
RCV000477100
RCV000572602
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305756.1:p.Arg1531His
CA021194
NM_001318827.2:c.4592G>A