ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829976862
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000227059
RCV000277301
RCV002450674
RCV004532846
ClinVar Variation:
237994
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066399.2:p.Val841Ile
CA10583310
NM_021055.3:c.2521G>A