ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828417665
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
467890
ClinVar RCV Id:
RCV000552124
RCV002404476
RCV003999256
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357334.1:p.Val564Ile
CA032290
NM_001370405.1:c.1690G>A