ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827019126
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
468031
ClinVar RCV Id:
RCV000530877
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305761.1:p.Pro1182Ala
CA394291882
NM_001318832.2:c.3544C>G