ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825571952
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1442644
ClinVar RCV Id:
RCV001969899
RCV002407144
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001107854.1:p.Ala42Val
CA276768623
NM_001114382.3:c.125C>T