ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829976099
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
141526
ClinVar RCV Id:
RCV000130092
RCV000530366
RCV004528853
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066399.2:p.Ala753Thr
CA017108
NM_021055.3:c.2257G>A