ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827018873
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
468013
ClinVar RCV Id:
RCV000543971
RCV002456156
RCV003999289
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305761.1:p.Val1106Ile
CA046764
NM_001318832.2:c.3316G>A