ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829979366
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
406069
ClinVar RCV Id:
RCV000570432
RCV000461845
RCV001662421
RCV004000712
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066399.2:p.Ala1152Val
CA047499
NM_021055.3:c.3455C>T