ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827002410
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
467936
ClinVar RCV Id:
RCV000544312
RCV000571953
RCV003225085
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305756.1:p.Ala735Val
CA038376
NM_001318827.2:c.2204C>T