ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829980720
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_066399.2:p.Val1364Met
CA050677
NM_021055.3:c.4090G>A