ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829983988
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1440541
ClinVar RCV Id:
RCV001978883
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066399.2:p.Pro1738Thr
CA394315676
NM_021055.3:c.5212C>A