ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827012243
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
406016
ClinVar RCV Id:
RCV000456699
RCV000571397
RCV004000697
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305758.1:p.Val1292Met
CA050677
NM_001318829.2:c.3874G>A