ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825440215
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000552124
RCV002404476
RCV003999256
ClinVar Variation:
467890
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001070651.1:p.Val564Ile
CA032290
NM_001077183.3:c.1690G>A