ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916023932
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
237994
ClinVar RCV Id:
RCV000227059
RCV000277301
RCV002450674
RCV004532846
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305761.1:p.Val852Ile
CA10583310
NM_001318832.2:c.2554G>A